Canonical Allele Identifier: CA402994219

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1398943T>C (hg19) ; chr19:g.1398944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398944T>C , CM000681.2:g.1398944T>C	GRCh38
NC_000019.9:g.1398943T>C , CM000681.1:g.1398943T>C	GRCh37
NC_000019.8:g.1349943T>C	NCBI36
NG_009785.1:g.7610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.542A>G MANE Select	ENSP00000252288.1:p.Lys181Arg
ENST00000447102.8:c.542A>G	ENSP00000403536.2:p.Lys181Arg
ENST00000591788.3:c.225A>G
ENST00000640164.1:n.375A>G
ENST00000640762.1:c.473A>G	ENSP00000492031.1:p.Lys158Arg
ENST00000252288.6:c.542A>G	ENSP00000252288.1:p.Lys181Arg
ENST00000447102.7:c.542A>G	ENSP00000403536.2:p.Lys181Arg
ENST00000591788.2:c.227A>G	ENSP00000466341.2:p.Lys76Arg
NM_000156.5:c.542A>G	NP_000147.1:p.Lys181Arg
NM_138924.2:c.542A>G	NP_620279.1:p.Lys181Arg
NM_000156.6:c.542A>G MANE Select	NP_000147.1:p.Lys181Arg
NM_138924.3:c.542A>G	NP_620279.1:p.Lys181Arg