Canonical Allele Identifier: CA2317698981

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398896G= , CM000681.2:g.1398896G=	GRCh38
NC_000019.9:g.1398895G= , CM000681.1:g.1398895G=	GRCh37
NC_000019.8:g.1349895G=	NCBI36
NG_009785.1:g.7658C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+20C= MANE Select	ENSP00000252288.1:n.570+20C=
ENST00000447102.8:c.590C=	ENSP00000403536.2:p.Pro197=
ENST00000591788.3:c.253+20C=
ENST00000640164.1:n.403+20C=
ENST00000640762.1:c.501+20C=	ENSP00000492031.1:n.501+20C=
ENST00000252288.6:c.570+20C=	ENSP00000252288.1:n.570+20C=
ENST00000447102.7:c.590C=	ENSP00000403536.2:p.Pro197=
ENST00000591788.2:c.255+20C=	ENSP00000466341.2:n.255+20C=
NM_000156.5:c.570+20C=	NP_000147.1:n.570+20C=
NM_138924.2:c.590C=	NP_620279.1:p.Pro197=
NM_000156.6:c.570+20C= MANE Select	NP_000147.1:n.570+20C=
NM_138924.3:c.590C=	NP_620279.1:p.Pro197=