Canonical Allele Identifier: CA504895151

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1398990G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398991G>C , CM000681.2:g.1398991G>C	GRCh38
NC_000019.9:g.1398990G>C , CM000681.1:g.1398990G>C	GRCh37
NC_000019.8:g.1349990G>C	NCBI36
NG_009785.1:g.7563C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.495C>G MANE Select	ENSP00000252288.1:p.Val165=
ENST00000447102.8:c.495C>G	ENSP00000403536.2:p.Val165=
ENST00000591788.3:c.178C>G
ENST00000640164.1:n.328C>G
ENST00000640762.1:c.426C>G	ENSP00000492031.1:p.Val142=
ENST00000252288.6:c.495C>G	ENSP00000252288.1:p.Val165=
ENST00000447102.7:c.495C>G	ENSP00000403536.2:p.Val165=
ENST00000591788.2:c.180C>G	ENSP00000466341.2:p.Val60=
NM_000156.5:c.495C>G	NP_000147.1:p.Val165=
NM_138924.2:c.495C>G	NP_620279.1:p.Val165=
NM_000156.6:c.495C>G MANE Select	NP_000147.1:p.Val165=
NM_138924.3:c.495C>G	NP_620279.1:p.Val165=