RGD:156404435 Rat Genome Database

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Variant: RGD:156404435 -  Homo sapiens

RGD ID: 156404435
ClinVar ID: CV1886720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AUH  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 94,118,242
GRCh38 9 91,355,960
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_449t1:c.341C>G
NM_001351431.2:c.14C>G
NM_001351432.2:c.14C>G
NM_001351433.2:c.14C>G
More... 		04/08/2022 missense variant uncertain significance 3 alpha methylglutaconic aciduria type I; 3 methylglutaconic aciduria type I; 3 methylglutaconyl CoA hydratase deficiency; 3MG CoA hydratase deficiency; MGA type I
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AUH
Accession:XM_047423527
Location:5UTRS;EXON

Gene Symbol:AUH
Accession:NM_001698
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKD
RLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252067
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLL
AFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252066
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEA
CYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252069
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQVKQIRRC*

Gene Symbol:AUH
Accession:XM_005252072
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGVTSSTEVLNPSKSSMKIGIIIF
QTPVNIDILASSHES*

Gene Symbol:AUH
Accession:XM_006717150
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAI
DGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLE
QNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE
*

Gene Symbol:AUH
Accession:XM_011518800
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGVTSSTEVLNPSK
SSMKIGIIIFQTPVNIDILASSHES*

Gene Symbol:AUH
Accession:XM_011518803
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAAWRAGQGHHSP
FIPVACSSASSRSLSRDQEE*

Gene Symbol:AUH
Accession:NM_001306190
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_017014849
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRY
KGE*

Gene Symbol:AUH
Accession:NM_001351433
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:NM_001351431
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:NM_001351432
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423525
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423528
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423526
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQVKQIRRC*

Gene Symbol:AUH
Accession:XM_047423529
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKGVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGVTSSTEVLNPSKSSMKIGIIIFQTPVNIDILASSHES*

Gene Symbol:AUH
Accession:XR_007061324
Location:EXON;NON-CODING

Gene Symbol:AUH
Accession:XR_007061323
Location:EXON;NON-CODING

Gene Symbol:AUH
Accession:XM_047423530
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003069719 CLINVAR
MedGen C0342727 CLINVAR
NCBI Gene AUH CLINVAR
OMIM 250950 CLINVAR
  600529 CLINVAR