ALG11 (ALG11 alpha-1,2-mannosyltransferase) - Rat Genome Database

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Gene: ALG11 (ALG11 alpha-1,2-mannosyltransferase) Homo sapiens
Analyze
Symbol: ALG11
Name: ALG11 alpha-1,2-mannosyltransferase
RGD ID: 1604899
HGNC Page HGNC
Description: Predicted to enable GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity. Predicted to be involved in oligosaccharide-lipid intermediate biosynthetic process and protein N-linked glycosylation. Located in membrane. Implicated in congenital disorder of glycosylation Ip.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALG11, alpha-1,2-mannosyltransferase; asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog; asparagine-linked glycosylation protein 11 homolog; CDG1P; GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase; glycolipid 2-alpha-mannosyltransferase; GT8; KIAA0266; UTP14, U3 small nucleolar ribonucleoprotein, homolog C; UTP14C
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC022146.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381352,012,398 - 52,033,600 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1352,012,391 - 52,079,232 (+)EnsemblGRCh38hg38GRCh38
GRCh371352,586,534 - 52,607,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361351,484,551 - 51,501,781 (+)NCBINCBI36hg18NCBI36
Celera1333,635,189 - 33,652,418 (+)NCBI
Cytogenetic Map13q14.3NCBI
HuRef1333,375,040 - 33,392,209 (+)NCBIHuRef
CHM1_11352,554,083 - 52,571,344 (+)NCBICHM1_1
T2T-CHM13v2.01351,227,214 - 51,248,416 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:12477932   PMID:15342556   PMID:16354793   PMID:17353931   PMID:19946888   PMID:20080937   PMID:20301507   PMID:21873635   PMID:22213132   PMID:25036826   PMID:26186194   PMID:28514442  
PMID:29507755   PMID:31182584   PMID:32353859   PMID:33060197   PMID:33845483   PMID:33961781   PMID:34373451  


Genomics

Comparative Map Data
ALG11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381352,012,398 - 52,033,600 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1352,012,391 - 52,079,232 (+)EnsemblGRCh38hg38GRCh38
GRCh371352,586,534 - 52,607,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361351,484,551 - 51,501,781 (+)NCBINCBI36hg18NCBI36
Celera1333,635,189 - 33,652,418 (+)NCBI
Cytogenetic Map13q14.3NCBI
HuRef1333,375,040 - 33,392,209 (+)NCBIHuRef
CHM1_11352,554,083 - 52,571,344 (+)NCBICHM1_1
T2T-CHM13v2.01351,227,214 - 51,248,416 (+)NCBI
Alg11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39822,550,731 - 22,561,643 (+)NCBIGRCm39mm39
GRCm39 Ensembl822,550,737 - 22,561,643 (+)Ensembl
GRCm38822,060,721 - 22,071,627 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl822,060,721 - 22,071,627 (+)EnsemblGRCm38mm10GRCm38
MGSCv37823,171,192 - 23,178,761 (+)NCBIGRCm37mm9NCBIm37
MGSCv36823,526,265 - 23,533,834 (+)NCBImm8
Celera823,557,202 - 23,564,890 (+)NCBICelera
Cytogenetic Map8A2NCBI
Alg11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21669,940,540 - 69,951,617 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1669,944,349 - 69,951,601 (-)Ensembl
Rnor_6.01674,854,007 - 74,866,096 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1674,857,562 - 74,864,816 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01674,484,745 - 74,495,352 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41674,600,058 - 74,607,303 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1667,829,358 - 67,836,603 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Alg11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554315,297,715 - 5,306,590 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554315,297,477 - 5,320,653 (+)NCBIChiLan1.0ChiLan1.0
ALG11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11351,888,744 - 51,905,894 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1351,888,738 - 51,905,894 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01333,144,708 - 33,166,033 (+)NCBIMhudiblu_PPA_v0panPan3
ALG11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.122149,538 - 162,206 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl22151,641 - 162,512 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha22184,401 - 197,816 (-)NCBI
ROS_Cfam_1.022131,602 - 145,157 (-)NCBI
UMICH_Zoey_3.12252,552 - 66,105 (-)NCBI
UNSW_CanFamBas_1.022102,125 - 115,676 (-)NCBI
UU_Cfam_GSD_1.022120,135 - 133,689 (-)NCBI
Alg11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945161,279,777 - 161,291,528 (+)NCBI
SpeTri2.0NW_0049365654,763,894 - 4,775,360 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALG11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1115,851,711 - 15,876,392 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11115,851,352 - 15,876,452 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21116,177,793 - 16,201,471 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALG11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1329,899,345 - 29,920,805 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl329,899,441 - 29,915,860 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605713,894,301 - 13,915,734 (-)NCBIVero_WHO_p1.0
Alg11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247482,104,973 - 2,112,296 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247482,103,233 - 2,112,538 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-8883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371352,587,021 - 52,587,225UniSTSGRCh37
Build 361351,485,022 - 51,485,226RGDNCBI36
Celera1333,635,660 - 33,635,864RGD
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map13q14.3UniSTS
HuRef1333,375,538 - 33,375,742UniSTS
RH103804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371352,598,840 - 52,598,963UniSTSGRCh37
Build 361351,496,841 - 51,496,964RGDNCBI36
Celera1333,647,478 - 33,647,601RGD
Cytogenetic Map13q14.2UniSTS
HuRef1333,387,265 - 33,387,388UniSTS
GeneMap99-GB4 RH Map13155.53UniSTS
WI-13764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371352,603,628 - 52,603,777UniSTSGRCh37
Build 361351,501,629 - 51,501,778RGDNCBI36
Celera1333,652,266 - 33,652,415RGD
Cytogenetic Map13q14.2UniSTS
HuRef1333,392,053 - 33,392,202UniSTS
GeneMap99-GB4 RH Map13147.25UniSTS
Whitehead-RH Map13145.3UniSTS
STS-R36092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371352,595,352 - 52,595,595UniSTSGRCh37
Build 361351,493,353 - 51,493,596RGDNCBI36
Celera1333,643,991 - 33,644,234RGD
Cytogenetic Map13q14.2UniSTS
HuRef1333,383,777 - 33,384,020UniSTS
GeneMap99-GB4 RH Map13147.1UniSTS
SHGC-3226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371352,603,533 - 52,603,713UniSTSGRCh37
Build 361351,501,534 - 51,501,714RGDNCBI36
Celera1333,652,171 - 33,652,351RGD
Cytogenetic Map13q14.2UniSTS
HuRef1333,391,958 - 33,392,138UniSTS
GeneMap99-GB4 RH Map13147.1UniSTS
Whitehead-RH Map13145.3UniSTS
NCBI RH Map13453.0UniSTS
GeneMap99-G3 RH Map131394.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:993
Count of miRNA genes:444
Interacting mature miRNAs:480
Transcripts:ENST00000519151, ENST00000521508, ENST00000523764
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 28 7 10 5 38 4 18 6 37 5 55 20 4 1 2 2
Low 2391 2176 1622 532 1316 374 4288 1971 2612 382 1400 1589 171 1204 2737 4
Below cutoff 20 804 94 87 593 87 51 220 1085 32 5 4 51

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001004127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK025456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP373026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC366525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH961780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000519151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,020,569 - 52,028,749 (+)Ensembl
RefSeq Acc Id: ENST00000521508   ⟹   ENSP00000430236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,398 - 52,033,600 (+)Ensembl
RefSeq Acc Id: ENST00000523764   ⟹   ENSP00000429497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,398 - 52,029,657 (+)Ensembl
RefSeq Acc Id: ENST00000616513   ⟹   ENSP00000481922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,411 - 52,017,713 (+)Ensembl
RefSeq Acc Id: ENST00000649340   ⟹   ENSP00000497184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,398 - 52,032,190 (+)Ensembl
RefSeq Acc Id: ENST00000649651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,014,565 - 52,033,540 (+)Ensembl
RefSeq Acc Id: ENST00000649708   ⟹   ENSP00000497459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,391 - 52,054,316 (+)Ensembl
RefSeq Acc Id: ENST00000650049   ⟹   ENSP00000497398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,413 - 52,028,689 (+)Ensembl
RefSeq Acc Id: ENST00000679359   ⟹   ENSP00000505579
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,411 - 52,033,540 (+)Ensembl
RefSeq Acc Id: ENST00000679495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,419 - 52,079,232 (+)Ensembl
RefSeq Acc Id: ENST00000679544   ⟹   ENSP00000505560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,398 - 52,033,532 (+)Ensembl
RefSeq Acc Id: ENST00000680058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,023,828 - 52,033,540 (+)Ensembl
RefSeq Acc Id: ENST00000680793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,398 - 52,032,171 (+)Ensembl
RefSeq Acc Id: ENST00000680950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,404 - 52,033,540 (+)Ensembl
RefSeq Acc Id: ENST00000681047   ⟹   ENSP00000505034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,398 - 52,033,540 (+)Ensembl
RefSeq Acc Id: ENST00000681053   ⟹   ENSP00000505307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,398 - 52,033,540 (+)Ensembl
RefSeq Acc Id: ENST00000681145   ⟹   ENSP00000505163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,411 - 52,029,554 (+)Ensembl
RefSeq Acc Id: ENST00000681226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1352,012,411 - 52,032,171 (+)Ensembl
RefSeq Acc Id: NM_001004127   ⟹   NP_001004127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381352,012,398 - 52,033,600 (+)NCBI
GRCh371352,586,523 - 52,603,784 (+)ENTREZGENE
Build 361351,484,551 - 51,501,781 (+)NCBI Archive
Celera1333,635,189 - 33,652,418 (+)RGD
HuRef1333,375,040 - 33,392,209 (+)ENTREZGENE
CHM1_11352,554,083 - 52,571,340 (+)NCBI
T2T-CHM13v2.01351,227,214 - 51,248,416 (+)NCBI
Sequence:
RefSeq Acc Id: NR_036571
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381352,012,398 - 52,033,600 (+)NCBI
GRCh371352,586,523 - 52,603,784 (+)ENTREZGENE
HuRef1333,375,040 - 33,392,209 (+)ENTREZGENE
CHM1_11352,554,083 - 52,571,344 (+)NCBI
T2T-CHM13v2.01351,227,214 - 51,248,416 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001004127   ⟸   NM_001004127
- UniProtKB: Q2TAA5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000497184   ⟸   ENST00000649340
RefSeq Acc Id: ENSP00000497459   ⟸   ENST00000649708
RefSeq Acc Id: ENSP00000497398   ⟸   ENST00000650049
RefSeq Acc Id: ENSP00000430236   ⟸   ENST00000521508
RefSeq Acc Id: ENSP00000429497   ⟸   ENST00000523764
RefSeq Acc Id: ENSP00000481922   ⟸   ENST00000616513
RefSeq Acc Id: ENSP00000505163   ⟸   ENST00000681145
RefSeq Acc Id: ENSP00000505560   ⟸   ENST00000679544
RefSeq Acc Id: ENSP00000505034   ⟸   ENST00000681047
RefSeq Acc Id: ENSP00000505579   ⟸   ENST00000679359
RefSeq Acc Id: ENSP00000505307   ⟸   ENST00000681053
Protein Domains
ALG11_N   Glycos_transf_1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q2TAA5-F1-model_v2 AlphaFold Q2TAA5 1-492 view protein structure

Promoters
RGD ID:6791213
Promoter ID:HG_KWN:17944
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:UC001VFZ.1,   UC001VGA.1,   UC001VGB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361351,483,986 - 51,484,642 (+)MPROMDB
RGD ID:7226509
Promoter ID:EPDNEW_H18998
Type:initiation region
Name:ALG11_1
Description:ALG11, alpha-1,2-mannosyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381352,012,411 - 52,012,471EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs) deletion ALG11-CDG [RCV000024339] Chr13:52024352..52024371 [GRCh38]
Chr13:52598488..52598507 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser) single nucleotide variant ALG11-CDG [RCV000024340] Chr13:52024566 [GRCh38]
Chr13:52598702 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser) single nucleotide variant ALG11-CDG [RCV000024341] Chr13:52024872 [GRCh38]
Chr13:52599008 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys) single nucleotide variant ALG11-CDG [RCV000024342] Chr13:52024922 [GRCh38]
Chr13:52599058 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) single nucleotide variant ALG11-CDG [RCV000024343] Chr13:52024683 [GRCh38]
Chr13:52598819 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser) single nucleotide variant ALG11-CDG [RCV000000004] Chr13:52019125 [GRCh38]
Chr13:52593261 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.44+324T>C single nucleotide variant ALG11-CDG [RCV000576187] Chr13:52012786 [GRCh38]
Chr13:52586922 [GRCh37]
Chr13:13q14.3
likely benign
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3
pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33
pathogenic
GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3 copy number gain See cases [RCV000052006] Chr13:51717666..52258617 [GRCh38]
Chr13:52291802..52832752 [GRCh37]
Chr13:51189803..51730753 [NCBI36]
Chr13:13q14.3
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn) single nucleotide variant not provided [RCV000079329] Chr13:52028352 [GRCh38]
Chr13:52602488 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32
pathogenic
GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 copy number loss See cases [RCV000142223] Chr13:47765202..62058520 [GRCh38]
Chr13:48339337..62632653 [GRCh37]
Chr13:47237338..61530654 [NCBI36]
Chr13:13q14.2-21.31
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
NM_001004127.3(ALG11):c.1183A>G (p.Met395Val) single nucleotide variant not provided [RCV000152771] Chr13:52024913 [GRCh38]
Chr13:52599049 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.1309T>G (p.Phe437Val) single nucleotide variant not provided [RCV000152772] Chr13:52028420 [GRCh38]
Chr13:52602556 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro) single nucleotide variant ALG11-CDG [RCV001200939]|not provided [RCV000175645] Chr13:52019005 [GRCh38]
Chr13:52593141 [GRCh37]
Chr13:13q14.3
pathogenic|uncertain significance
NM_001004127.3(ALG11):c.1402C>T (p.Arg468Cys) single nucleotide variant not provided [RCV000255231] Chr13:52028513 [GRCh38]
Chr13:52602649 [GRCh37]
Chr13:13q14.3
likely pathogenic
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) single nucleotide variant ALG11-CDG [RCV000576234]|not specified [RCV000177093] Chr13:52024053 [GRCh38]
Chr13:52598189 [GRCh37]
Chr13:13q14.3
benign|likely benign
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) single nucleotide variant ALG11-CDG [RCV000303679]|not provided [RCV000177094] Chr13:52024532 [GRCh38]
Chr13:52598668 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) single nucleotide variant ALG11-CDG [RCV001089396]|not provided [RCV000224166]|not specified [RCV000424347] Chr13:52019041 [GRCh38]
Chr13:52593177 [GRCh37]
Chr13:13q14.3
benign|likely benign
NM_021645.6(UTP14C):c.508A>G (p.Ile170Val) single nucleotide variant ALG11-CDG [RCV001114749]|not provided [RCV000224403] Chr13:52029312 [GRCh38]
Chr13:52603448 [GRCh37]
Chr13:13q14.3
likely benign|uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001004127.3(ALG11):c.696A>T (p.Val232=) single nucleotide variant not specified [RCV000603643] Chr13:52024426 [GRCh38]
Chr13:52598562 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.1029A>G (p.Gly343=) single nucleotide variant ALG11-CDG [RCV000268441] Chr13:52024759 [GRCh38]
Chr13:52598895 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*148A>T single nucleotide variant ALG11-CDG [RCV000269741] Chr13:52028738 [GRCh38]
Chr13:52602874 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*406T>C single nucleotide variant ALG11-CDG [RCV000330702] Chr13:52028996 [GRCh38]
Chr13:52603132 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) single nucleotide variant ALG11-CDG [RCV000539935]|not specified [RCV000443076] Chr13:52024663 [GRCh38]
Chr13:52598799 [GRCh37]
Chr13:13q14.3
benign|likely benign
NM_001004127.3(ALG11):c.*515A>G single nucleotide variant ALG11-CDG [RCV000295578]|not provided [RCV001683258] Chr13:52029105 [GRCh38]
Chr13:52603241 [GRCh37]
Chr13:13q14.3
benign|likely benign
NM_001004127.2(ALG11):c.-23C>T single nucleotide variant ALG11-CDG [RCV000295863] Chr13:52012396 [GRCh38]
Chr13:52586532 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) single nucleotide variant ALG11-CDG [RCV000823673] Chr13:52019124 [GRCh38]
Chr13:52593260 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.1208-6T>C single nucleotide variant ALG11-CDG [RCV000364304]|not provided [RCV000889399] Chr13:52028313 [GRCh38]
Chr13:52602449 [GRCh37]
Chr13:13q14.3
likely benign|uncertain significance
NM_021645.6(UTP14C):c.835C>T (p.Leu279=) single nucleotide variant ALG11-CDG [RCV000282584]|not provided [RCV001709589] Chr13:52029639 [GRCh38]
Chr13:52603775 [GRCh37]
Chr13:13q14.3
benign
NM_001004127.3(ALG11):c.1123_1126del (p.Asn375fs) deletion not provided [RCV000271023] Chr13:52024852..52024855 [GRCh38]
Chr13:52598988..52598991 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr) single nucleotide variant ALG11-CDG [RCV001052506] Chr13:52024265 [GRCh38]
Chr13:52598401 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.44G>C (p.Arg15Thr) single nucleotide variant ALG11-CDG [RCV000350822]|not provided [RCV000493317] Chr13:52012462 [GRCh38]
Chr13:52586598 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*193A>C single nucleotide variant ALG11-CDG [RCV000329514]|not provided [RCV001711924] Chr13:52028783 [GRCh38]
Chr13:52602919 [GRCh37]
Chr13:13q14.3
benign
NM_001004127.3(ALG11):c.*953A>G single nucleotide variant ALG11-CDG [RCV000402569] Chr13:52029543 [GRCh38]
Chr13:52603679 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.97G>A (p.Val33Met) single nucleotide variant not provided [RCV000353366] Chr13:52018965 [GRCh38]
Chr13:52593101 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*277G>T single nucleotide variant ALG11-CDG [RCV000384111] Chr13:52028867 [GRCh38]
Chr13:52603003 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*468G>T single nucleotide variant ALG11-CDG [RCV000389852]|not provided [RCV001618548] Chr13:52029058 [GRCh38]
Chr13:52603194 [GRCh37]
Chr13:13q14.3
benign
NM_001004127.3(ALG11):c.*297G>A single nucleotide variant ALG11-CDG [RCV000294432] Chr13:52028887 [GRCh38]
Chr13:52603023 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*940A>C single nucleotide variant Congenital disorder of glycosylation [RCV000336422] Chr13:52029530 [GRCh38]
Chr13:52603666 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe) single nucleotide variant ALG11-CDG [RCV000323525] Chr13:52024764 [GRCh38]
Chr13:52598900 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_000053.4(ATP7B):c.-123_-119dupCGCCG duplication ALG11-CDG [RCV001517235]|Congenital disorder of glycosylation [RCV000332700]|Wilson disease [RCV000029348]|not provided [RCV001356992]|not specified [RCV002222329] Chr13:52011455..52011456 [GRCh38]
Chr13:52585591..52585592 [GRCh37]
Chr13:13q14.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001004127.3(ALG11):c.75C>T (p.Leu25=) single nucleotide variant ALG11-CDG [RCV000396940] Chr13:52018943 [GRCh38]
Chr13:52593079 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_000053.4(ATP7B):c.-75C>A single nucleotide variant ALG11-CDG [RCV001507217]|Congenital disorder of glycosylation [RCV000296384]|Wilson disease [RCV000384429]|not specified [RCV000434045] Chr13:52011412 [GRCh38]
Chr13:52585548 [GRCh37]
Chr13:13q14.3
benign
NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr) single nucleotide variant ALG11-CDG [RCV001580273] Chr13:52024914 [GRCh38]
Chr13:52599050 [GRCh37]
Chr13:13q14.3
likely pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
NM_001004127.3(ALG11):c.44+20G>T single nucleotide variant ALG11-CDG [RCV002058941]|not provided [RCV001703856] Chr13:52012482 [GRCh38]
Chr13:52586618 [GRCh37]
Chr13:13q14.3
benign|likely benign
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) single nucleotide variant ALG11-CDG [RCV000648390]|not specified [RCV000434618] Chr13:52024762 [GRCh38]
Chr13:52598898 [GRCh37]
Chr13:13q14.3
benign|likely benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001004127.3(ALG11):c.1257G>A (p.Ser419=) single nucleotide variant not specified [RCV000444031] Chr13:52028368 [GRCh38]
Chr13:52602504 [GRCh37]
Chr13:13q14.3
likely benign
GRCh37/hg19 13q14.2-14.3(chr13:48906943-52778614)x1 copy number loss See cases [RCV000448535] Chr13:48906943..52778614 [GRCh37]
Chr13:13q14.2-14.3
pathogenic
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) microsatellite ALG11-CDG [RCV001542780]|not provided [RCV000484706] Chr13:52024712..52024714 [GRCh38]
Chr13:52598848..52598850 [GRCh37]
Chr13:13q14.3
likely pathogenic
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly) single nucleotide variant ALG11-CDG [RCV001200937]|not provided [RCV000485363] Chr13:52024665 [GRCh38]
Chr13:52598801 [GRCh37]
Chr13:13q14.3
pathogenic|likely pathogenic
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg) single nucleotide variant ALG11-CDG [RCV001200938]|not provided [RCV000480080] Chr13:52028334 [GRCh38]
Chr13:52602470 [GRCh37]
Chr13:13q14.3
pathogenic|likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1 copy number loss not provided [RCV000509218] Chr13:51786657..54834098 [GRCh37]
Chr13:13q14.3
not provided
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) single nucleotide variant ALG11-CDG [RCV000648392]|not specified [RCV000616883] Chr13:52024837 [GRCh38]
Chr13:52598973 [GRCh37]
Chr13:13q14.3
benign|likely benign
NM_001004127.3(ALG11):c.789C>T (p.Asn263=) single nucleotide variant not provided [RCV000595801] Chr13:52024519 [GRCh38]
Chr13:52598655 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) single nucleotide variant ALG11-CDG [RCV000648389]|not provided [RCV001558426] Chr13:52024136 [GRCh38]
Chr13:52598272 [GRCh37]
Chr13:13q14.3
uncertain significance
Single allele deletion Intellectual disability [RCV000684766] Chr13:48225451..58070399 [GRCh37]
Chr13:13q14.2-21.1
likely pathogenic
GRCh37/hg19 13q14.3(chr13:52580525-52693303)x1 copy number loss not provided [RCV000683489] Chr13:52580525..52693303 [GRCh37]
Chr13:13q14.3
likely benign
GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3 copy number gain not provided [RCV000683569] Chr13:51939350..66854666 [GRCh37]
Chr13:13q14.3-21.32
likely pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
NC_000013.10:g.(?_52538988)_(52602746_?)dup duplication ALG11-CDG [RCV000708392] Chr13:51964852..52028610 [GRCh38]
Chr13:52538988..52602746 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) single nucleotide variant ALG11-CDG [RCV000697546] Chr13:52024553 [GRCh38]
Chr13:52598689 [GRCh37]
Chr13:13q14.3
uncertain significance
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.3(chr13:52506048-52778214)x1 copy number loss not provided [RCV000750722] Chr13:52506048..52778214 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.2T>C (p.Met1Thr) single nucleotide variant ALG11-CDG [RCV001542779] Chr13:52012420 [GRCh38]
Chr13:52586556 [GRCh37]
Chr13:13q14.3
likely pathogenic
NM_001004127.3(ALG11):c.276-254A>G single nucleotide variant not provided [RCV001690442] Chr13:52023752 [GRCh38]
Chr13:52597888 [GRCh37]
Chr13:13q14.3
benign
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser) single nucleotide variant ALG11-CDG [RCV001114641] Chr13:52012428 [GRCh38]
Chr13:52586564 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg) single nucleotide variant ALG11-CDG [RCV001114643] Chr13:52019036 [GRCh38]
Chr13:52593172 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.735A>T (p.Gly245=) single nucleotide variant not provided [RCV000942362] Chr13:52024465 [GRCh38]
Chr13:52598601 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.870T>C (p.Ile290=) single nucleotide variant not provided [RCV000922468] Chr13:52024600 [GRCh38]
Chr13:52598736 [GRCh37]
Chr13:13q14.3
likely benign
NM_021645.6(UTP14C):c.2214C>G (p.Tyr738Ter) single nucleotide variant not provided [RCV000856586] Chr13:52031018 [GRCh38]
Chr13:52605154 [GRCh37]
Chr13:13q14.3
uncertain significance
NC_000013.11:g.(?_52011277)_(52029658_?)del deletion Wilson disease [RCV001032804] Chr13:52585413..52603794 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.1293A>G (p.Glu431=) single nucleotide variant not provided [RCV000916926] Chr13:52028404 [GRCh38]
Chr13:52602540 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.1074A>G (p.Arg358=) single nucleotide variant not provided [RCV000909287] Chr13:52024804 [GRCh38]
Chr13:52598940 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.678T>C (p.Asn226=) single nucleotide variant ALG11-CDG [RCV001406950]|not provided [RCV000937308] Chr13:52024408 [GRCh38]
Chr13:52598544 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.44+10C>G single nucleotide variant not provided [RCV000897831] Chr13:52012472 [GRCh38]
Chr13:52586608 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu) single nucleotide variant ALG11-CDG [RCV000810277] Chr13:52024629 [GRCh38]
Chr13:52598765 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13q14.3(chr13:52505074-52763413)x1 copy number loss not provided [RCV000849177] Chr13:52505074..52763413 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val) single nucleotide variant ALG11-CDG [RCV000809010] Chr13:52012423 [GRCh38]
Chr13:52586559 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*491G>A single nucleotide variant ALG11-CDG [RCV001114746] Chr13:52029081 [GRCh38]
Chr13:52603217 [GRCh37]
Chr13:13q14.3
uncertain significance
NC_000013.11:g.(?_51934736)_(52028610_?)del deletion Wilson disease [RCV001032078] Chr13:52508872..52602746 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.*490C>T single nucleotide variant ALG11-CDG [RCV001114745] Chr13:52029080 [GRCh38]
Chr13:52603216 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*684T>G single nucleotide variant ALG11-CDG [RCV001114748] Chr13:52029274 [GRCh38]
Chr13:52603410 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13q14.3(chr13:52538548-53354011)x3 copy number gain not provided [RCV000847753] Chr13:52538548..53354011 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg) single nucleotide variant ALG11-CDG [RCV001221356] Chr13:52024227 [GRCh38]
Chr13:52598363 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1 copy number loss not provided [RCV000846575] Chr13:49586017..61311845 [GRCh37]
Chr13:13q14.2-21.2
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala) single nucleotide variant ALG11-CDG [RCV001111360] Chr13:52028325 [GRCh38]
Chr13:52602461 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg) single nucleotide variant ALG11-CDG [RCV001109008] Chr13:52024011 [GRCh38]
Chr13:52598147 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.526A>G (p.Met176Val) single nucleotide variant ALG11-CDG [RCV001109009] Chr13:52024256 [GRCh38]
Chr13:52598392 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.900A>T (p.Gly300=) single nucleotide variant ALG11-CDG [RCV001109010] Chr13:52024630 [GRCh38]
Chr13:52598766 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.14A>G (p.Glu5Gly) single nucleotide variant not provided [RCV001566914] Chr13:52012432 [GRCh38]
Chr13:52586568 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.45-121G>A single nucleotide variant not provided [RCV001549701] Chr13:52018792 [GRCh38]
Chr13:52592928 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.*1170G>A single nucleotide variant not provided [RCV001685939] Chr13:52029760 [GRCh38]
Chr13:52603896 [GRCh37]
Chr13:13q14.3
benign
Single allele single nucleotide variant not provided [RCV001559346] Chr13:52012324 [GRCh38]
Chr13:52586460 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.774T>G (p.Ser258=) single nucleotide variant not provided [RCV000922326] Chr13:52024504 [GRCh38]
Chr13:52598640 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.804A>G (p.Leu268=) single nucleotide variant not provided [RCV000974704] Chr13:52024534 [GRCh38]
Chr13:52598670 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.1008G>A (p.Ser336=) single nucleotide variant not provided [RCV000932470] Chr13:52024738 [GRCh38]
Chr13:52598874 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.1344T>G (p.Thr448=) single nucleotide variant not provided [RCV000933462] Chr13:52028455 [GRCh38]
Chr13:52602591 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.1452A>G (p.Leu484=) single nucleotide variant ALG11-CDG [RCV002065538]|not provided [RCV000887833] Chr13:52028563 [GRCh38]
Chr13:52602699 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.190G>A (p.Val64Met) single nucleotide variant ALG11-CDG [RCV001114644] Chr13:52019058 [GRCh38]
Chr13:52593194 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*540T>A single nucleotide variant ALG11-CDG [RCV001114747] Chr13:52029130 [GRCh38]
Chr13:52603266 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*386C>T single nucleotide variant ALG11-CDG [RCV001113372] Chr13:52028976 [GRCh38]
Chr13:52603112 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val) single nucleotide variant ALG11-CDG [RCV001234909] Chr13:52028460 [GRCh38]
Chr13:52602596 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.798C>T (p.Leu266=) single nucleotide variant not provided [RCV000934627] Chr13:52024528 [GRCh38]
Chr13:52598664 [GRCh37]
Chr13:13q14.3
likely benign
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 copy number loss not provided [RCV001006564] Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3
pathogenic
NM_001004127.3(ALG11):c.276-194dup duplication not provided [RCV001621490] Chr13:52023792..52023793 [GRCh38]
Chr13:52597928..52597929 [GRCh37]
Chr13:13q14.3
benign
NM_001004127.3(ALG11):c.1207+62A>G single nucleotide variant not provided [RCV001641232] Chr13:52024999 [GRCh38]
Chr13:52599135 [GRCh37]
Chr13:13q14.3
benign
NM_001004127.3(ALG11):c.1208-225T>A single nucleotide variant not provided [RCV001590701] Chr13:52028094 [GRCh38]
Chr13:52602230 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His) single nucleotide variant ALG11-CDG [RCV001111359] Chr13:52024767 [GRCh38]
Chr13:52598903 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) single nucleotide variant ALG11-CDG [RCV001111361] Chr13:52028380 [GRCh38]
Chr13:52602516 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*754A>C single nucleotide variant ALG11-CDG [RCV001109119] Chr13:52029344 [GRCh38]
Chr13:52603480 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*789A>G single nucleotide variant ALG11-CDG [RCV001109120] Chr13:52029379 [GRCh38]
Chr13:52603515 [GRCh37]
Chr13:13q14.3
uncertain significance
NC_000013.11:g.(?_51934746)_(52029658_?)del deletion Wilson disease [RCV001033724] Chr13:52508882..52603794 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.*22G>T single nucleotide variant ALG11-CDG [RCV001113370] Chr13:52028612 [GRCh38]
Chr13:52602748 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg) single nucleotide variant ALG11-CDG [RCV001114642] Chr13:52012439 [GRCh38]
Chr13:52586575 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.*173G>A single nucleotide variant ALG11-CDG [RCV001113371]|not provided [RCV001779118] Chr13:52028763 [GRCh38]
Chr13:52602899 [GRCh37]
Chr13:13q14.3
likely benign
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3 copy number gain not provided [RCV001258545] Chr13:45487628..52639336 [GRCh37]
Chr13:13q14.12-14.3
likely pathogenic
GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3 copy number gain not provided [RCV001270648] Chr13:52170957..57713087 [GRCh37]
Chr13:13q14.3-21.1
uncertain significance
NM_001004127.3(ALG11):c.991G>T (p.Val331Phe) single nucleotide variant ALG11-CDG [RCV001330083] Chr13:52024721 [GRCh38]
Chr13:52598857 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys) single nucleotide variant ALG11-CDG [RCV001314235] Chr13:52024366 [GRCh38]
Chr13:52598502 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu) single nucleotide variant ALG11-CDG [RCV001371482] Chr13:52024252 [GRCh38]
Chr13:52598388 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu) single nucleotide variant ALG11-CDG [RCV001373697] Chr13:52019055 [GRCh38]
Chr13:52593191 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.1A>G (p.Met1Val) single nucleotide variant ALG11-CDG [RCV001330082] Chr13:52012419 [GRCh38]
Chr13:52586555 [GRCh37]
Chr13:13q14.3
likely pathogenic
NM_001004127.3(ALG11):c.1191C>T (p.Asn397=) single nucleotide variant ALG11-CDG [RCV001470318] Chr13:52024921 [GRCh38]
Chr13:52599057 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.44+154G>A single nucleotide variant ALG11-CDG [RCV001481254]|not provided [RCV001561412] Chr13:52012616 [GRCh38]
Chr13:52586752 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.45-331G>C single nucleotide variant not provided [RCV001592033] Chr13:52018582 [GRCh38]
Chr13:52592718 [GRCh37]
Chr13:13q14.3
likely benign
NC_000013.10:g.(?_52585403)_(52602726_?)del deletion ALG11-CDG [RCV001871995]|Wilson disease [RCV001386933] Chr13:52585403..52602726 [GRCh37]
Chr13:13q14.3
pathogenic
NM_001004127.3(ALG11):c.276-13_276-10delinsGGTTAAGATTTTAAC indel not provided [RCV001767617] Chr13:52023993..52023996 [GRCh38]
Chr13:52598129..52598132 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.-4_13dup (p.Glu5fs) duplication not provided [RCV001763862] Chr13:52012409..52012410 [GRCh38]
Chr13:52586545..52586546 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 copy number loss not provided [RCV001795546] Chr13:45819046..63910212 [GRCh37]
Chr13:13q14.13-21.31
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NM_001004127.3(ALG11):c.940A>G (p.Asn314Asp) single nucleotide variant not provided [RCV001757907] Chr13:52024670 [GRCh38]
Chr13:52598806 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala) single nucleotide variant ALG11-CDG [RCV002032778]|not provided [RCV001757838] Chr13:52024890 [GRCh38]
Chr13:52599026 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137) copy number loss not specified [RCV002053058] Chr13:44573371..53324137 [GRCh37]
Chr13:13q14.11-14.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3
pathogenic
NM_001004127.3(ALG11):c.124A>G (p.Ile42Val) single nucleotide variant ALG11-CDG [RCV002041668] Chr13:52018992 [GRCh38]
Chr13:52593128 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala) single nucleotide variant ALG11-CDG [RCV001893443] Chr13:52024676 [GRCh38]
Chr13:52598812 [GRCh37]
Chr13:13q14.3
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly) single nucleotide variant ALG11-CDG [RCV001955489] Chr13:52024392 [GRCh38]
Chr13:52598528 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu) single nucleotide variant ALG11-CDG [RCV002027486] Chr13:52024667 [GRCh38]
Chr13:52598803 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly) single nucleotide variant ALG11-CDG [RCV002036469] Chr13:52012449 [GRCh38]
Chr13:52586585 [GRCh37]
Chr13:13q14.3
uncertain significance
NC_000013.10:g.(?_51484193)_(52602746_?)dup duplication Aicardi-Goutieres syndrome 2 [RCV001952813] Chr13:51484193..52602746 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser) single nucleotide variant ALG11-CDG [RCV001920896] Chr13:52024055 [GRCh38]
Chr13:52598191 [GRCh37]
Chr13:13q14.3
uncertain significance
NM_001004127.3(ALG11):c.874T>C (p.Leu292=) single nucleotide variant ALG11-CDG [RCV002091768] Chr13:52024604 [GRCh38]
Chr13:52598740 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.1208-14G>T single nucleotide variant ALG11-CDG [RCV002174385] Chr13:52028305 [GRCh38]
Chr13:52602441 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.1208-7T>C single nucleotide variant ALG11-CDG [RCV002174386] Chr13:52028312 [GRCh38]
Chr13:52602448 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.18G>A (p.Arg6=) single nucleotide variant ALG11-CDG [RCV002097369] Chr13:52012436 [GRCh38]
Chr13:52586572 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.402G>A (p.Arg134=) single nucleotide variant ALG11-CDG [RCV002139263] Chr13:52024132 [GRCh38]
Chr13:52598268 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.987G>A (p.Lys329=) single nucleotide variant ALG11-CDG [RCV002081478] Chr13:52024717 [GRCh38]
Chr13:52598853 [GRCh37]
Chr13:13q14.3
likely benign
NM_001004127.3(ALG11):c.44+19G>A single nucleotide variant ALG11-CDG [RCV002201849] Chr13:52012481 [GRCh38]
Chr13:52586617 [GRCh37]
Chr13:13q14.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32456 AgrOrtholog
COSMIC ALG11 COSMIC
Ensembl Genes ENSG00000253710 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000429497 UniProtKB/TrEMBL
  ENSP00000430236 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481922 UniProtKB/TrEMBL
  ENSP00000497184 UniProtKB/TrEMBL
  ENSP00000497398 UniProtKB/TrEMBL
  ENSP00000497459 UniProtKB/TrEMBL
  ENSP00000505034 UniProtKB/TrEMBL
  ENSP00000505163 UniProtKB/TrEMBL
  ENSP00000505307 UniProtKB/TrEMBL
  ENSP00000505560 UniProtKB/TrEMBL
  ENSP00000505579 UniProtKB/TrEMBL
Ensembl Transcript ENST00000521508 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523764 UniProtKB/TrEMBL
  ENST00000616513 UniProtKB/TrEMBL
  ENST00000649340 UniProtKB/TrEMBL
  ENST00000649708 UniProtKB/TrEMBL
  ENST00000650049 UniProtKB/TrEMBL
  ENST00000679359 UniProtKB/TrEMBL
  ENST00000679544 UniProtKB/TrEMBL
  ENST00000681047 UniProtKB/TrEMBL
  ENST00000681053 UniProtKB/TrEMBL
  ENST00000681145 UniProtKB/TrEMBL
GTEx ENSG00000253710 GTEx
HGNC ID HGNC:32456 ENTREZGENE
Human Proteome Map ALG11 Human Proteome Map
InterPro ALG11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALG11_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_trans_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:440138 UniProtKB/Swiss-Prot
NCBI Gene 440138 ENTREZGENE
OMIM 613661 OMIM
  613666 OMIM
PANTHER PTHR45919 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ALG11_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycos_transf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA144596518 PharmGKB
UniProt A0A087WYL8_HUMAN UniProtKB/TrEMBL
  A0A3B3IS90_HUMAN UniProtKB/TrEMBL
  A0A3B3ISP7_HUMAN UniProtKB/TrEMBL
  A0A3B3ISU2_HUMAN UniProtKB/TrEMBL
  A0A7P0T8B1_HUMAN UniProtKB/TrEMBL
  A0A7P0T8Y4_HUMAN UniProtKB/TrEMBL
  A0A7P0T9G5_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4B5_HUMAN UniProtKB/TrEMBL
  ALG11_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5TAP0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5PLP3 UniProtKB/Swiss-Prot
  B4DKW9 UniProtKB/Swiss-Prot
  Q5TAN9 UniProtKB/Swiss-Prot
  Q6DKI6 UniProtKB/Swiss-Prot
  Q96FI7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 ALG11  ALG11 alpha-1,2-mannosyltransferase    ALG11, alpha-1,2-mannosyltransferase  Symbol and/or name change 5135510 APPROVED
2013-02-27 ALG11  ALG11, alpha-1,2-mannosyltransferase    asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)  Symbol and/or name change 5135510 APPROVED