Canonical Allele Identifier: CA9043604

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2913445
• ClinVar RCV Id: RCV003747587
• dbSNP Id: rs762158709
• ExAC: 19:1398898 A / G
• gnomAD v2: 19-1398898-A-G
• gnomAD v4: 19-1398899-A-G
• MyVariant Identifiers: chr19:g.1398898A>G (hg19) ; chr19:g.1398899A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398899A>G , CM000681.2:g.1398899A>G	GRCh38
NC_000019.9:g.1398898A>G , CM000681.1:g.1398898A>G	GRCh37
NC_000019.8:g.1349898A>G	NCBI36
NG_009785.1:g.7655T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+17T>C MANE Select	ENSP00000252288.1:n.570+17T>C
ENST00000447102.8:c.587T>C	ENSP00000403536.2:p.Val196Ala
ENST00000591788.3:c.253+17T>C
ENST00000640164.1:n.403+17T>C
ENST00000640762.1:c.501+17T>C	ENSP00000492031.1:n.501+17T>C
ENST00000252288.6:c.570+17T>C	ENSP00000252288.1:n.570+17T>C
ENST00000447102.7:c.587T>C	ENSP00000403536.2:p.Val196Ala
ENST00000591788.2:c.255+17T>C	ENSP00000466341.2:n.255+17T>C
NM_000156.5:c.570+17T>C	NP_000147.1:n.570+17T>C
NM_138924.2:c.587T>C	NP_620279.1:p.Val196Ala
NM_000156.6:c.570+17T>C MANE Select	NP_000147.1:n.570+17T>C
NM_138924.3:c.587T>C	NP_620279.1:p.Val196Ala