Canonical Allele Identifier: CA402992800

Gene: GAMT

Linked Data

• dbSNP Id: rs114229164
• gnomAD v2: 19-1398782-C-A
• gnomAD v3: 19-1398783-C-A
• gnomAD v4: 19-1398783-C-A
• MyVariant Identifiers: chr19:g.1398782C>A (hg19) ; chr19:g.1398783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398783C>A , CM000681.2:g.1398783C>A	GRCh38
NC_000019.9:g.1398782C>A , CM000681.1:g.1398782C>A	GRCh37
NC_000019.8:g.1349782C>A	NCBI36
NG_009785.1:g.7771G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+133G>T MANE Select	ENSP00000252288.1:n.570+133G>T
ENST00000447102.8:c.703G>T	ENSP00000403536.2:p.Val235Phe
ENST00000591788.3:c.254-36G>T
ENST00000640164.1:n.403+133G>T
ENST00000640762.1:c.501+133G>T	ENSP00000492031.1:n.501+133G>T
ENST00000252288.6:c.570+133G>T	ENSP00000252288.1:n.570+133G>T
ENST00000447102.7:c.703G>T	ENSP00000403536.2:p.Val235Phe
ENST00000591788.2:c.256-36G>T	ENSP00000466341.2:n.256-36G>T
NM_000156.5:c.570+133G>T	NP_000147.1:n.570+133G>T
NM_138924.2:c.703G>T	NP_620279.1:p.Val235Phe
NM_000156.6:c.570+133G>T MANE Select	NP_000147.1:n.570+133G>T
NM_138924.3:c.703G>T	NP_620279.1:p.Val235Phe