Canonical Allele Identifier: CA2317699021

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398982G= , CM000681.2:g.1398982G=	GRCh38
NC_000019.9:g.1398981G= , CM000681.1:g.1398981G=	GRCh37
NC_000019.8:g.1349981G=	NCBI36
NG_009785.1:g.7572C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.504C= MANE Select	ENSP00000252288.1:p.Tyr168=
ENST00000447102.8:c.504C=	ENSP00000403536.2:p.Tyr168=
ENST00000591788.3:c.187C=
ENST00000640164.1:n.337C=
ENST00000640762.1:c.435C=	ENSP00000492031.1:p.Tyr145=
ENST00000252288.6:c.504C=	ENSP00000252288.1:p.Tyr168=
ENST00000447102.7:c.504C=	ENSP00000403536.2:p.Tyr168=
ENST00000591788.2:c.189C=	ENSP00000466341.2:p.Tyr63=
NM_000156.5:c.504C=	NP_000147.1:p.Tyr168=
NM_138924.2:c.504C=	NP_620279.1:p.Tyr168=
NM_000156.6:c.504C= MANE Select	NP_000147.1:p.Tyr168=
NM_138924.3:c.504C=	NP_620279.1:p.Tyr168=