Canonical Allele Identifier: CA2317698989

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398911C= , CM000681.2:g.1398911C=	GRCh38
NC_000019.9:g.1398910C= , CM000681.1:g.1398910C=	GRCh37
NC_000019.8:g.1349910C=	NCBI36
NG_009785.1:g.7643G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.570+5G= MANE Select	ENSP00000252288.1:n.570+5G=
ENST00000447102.8:c.575G=	ENSP00000403536.2:p.Arg192=
ENST00000591788.3:c.253+5G=
ENST00000640164.1:n.403+5G=
ENST00000640762.1:c.501+5G=	ENSP00000492031.1:n.501+5G=
ENST00000252288.6:c.570+5G=	ENSP00000252288.1:n.570+5G=
ENST00000447102.7:c.575G=	ENSP00000403536.2:p.Arg192=
ENST00000591788.2:c.255+5G=	ENSP00000466341.2:n.255+5G=
NM_000156.5:c.570+5G=	NP_000147.1:n.570+5G=
NM_138924.2:c.575G=	NP_620279.1:p.Arg192=
NM_000156.6:c.570+5G= MANE Select	NP_000147.1:n.570+5G=
NM_138924.3:c.575G=	NP_620279.1:p.Arg192=