RGD:156365323 Rat Genome Database

RGD:156365323 Rat Genome Database

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Variant: RGD:156365323 - Homo sapiens

RGD ID:

156365323

ClinVar ID:

CV1906142

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	16	30,080,830
GRCh38	16	30,069,509

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001365307.2:c.*1144C>T NM_001127617.2:c.635C>T NM_184041.5:c.635C>T NM_184043.2:c.635C>T More...	08/22/2022	3 prime utr variant	uncertain significance	Glycogen storage disease due to aldolase A deficiency; Glycogen storage disease type 12; GLYCOGEN STORAGE DISEASE XII; GSD XII; Red cell aldolase deficiency

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1906142	Human	Glycogen Storage Disease XII		IAGP		8554872	ClinVar Annotator: match by term: Red cell aldolase deficiency	ClinVar	PMID:28492532

Gene Symbol:	ALDOA
Accession:	NM_001365304
Location:	3UTRS;EXON

Gene Symbol:	ALDOA
Accession:	NM_001365307
Location:	3UTRS;EXON

Gene Symbol:	ALDOA
Accession:	NM_001365305
Location:	3UTRS;EXON

Gene Symbol:	ALDOA
Accession:	NM_001243177
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARRKPEGSSFNMTHLSMAMAFSFPPVASGQLHPQLGNTQHQTELGKELATTSTMPYQYPALTPEQKKELSDIAHRIVAP GKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVG IKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQNGIVPI VEPEILPDGDHDLKRCQYVTEKVLAVVYKALSDHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVT GITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALANSLACQGKYTPS GQAGAAASESLFVSNHAY*

Gene Symbol:	ALDOA
Accession:	NM_184043
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILF HETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPS ALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAVVYKALSDHHIYLEGTLLKPNMVTPGHAC TQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKEN LKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY*

Gene Symbol:	ALDOA
Accession:	NM_001127617
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILF HETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPS ALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAVVYKALSDHHIYLEGTLLKPNMVTPGHAC TQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKEN LKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY*

Gene Symbol:	ALDOA
Accession:	NM_184041
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILF HETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPS ALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAVVYKALSDHHIYLEGTLLKPNMVTPGHAC TQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKEN LKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003092013	CLINVAR
MedGen	C0272066	CLINVAR
NCBI Gene	ALDOA	CLINVAR
	ALDOA	CLINVAR
OMIM	103850	CLINVAR
	611881	CLINVAR
SNOMED CT	111578003	CLINVAR