Canonical Allele Identifier: CA2317698983

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398901T= , CM000681.2:g.1398901T=	GRCh38
NC_000019.9:g.1398900T= , CM000681.1:g.1398900T=	GRCh37
NC_000019.8:g.1349900T=	NCBI36
NG_009785.1:g.7653A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+15A= MANE Select	ENSP00000252288.1:n.570+15A=
ENST00000447102.8:c.585A=	ENSP00000403536.2:p.Glu195=
ENST00000591788.3:c.253+15A=
ENST00000640164.1:n.403+15A=
ENST00000640762.1:c.501+15A=	ENSP00000492031.1:n.501+15A=
ENST00000252288.6:c.570+15A=	ENSP00000252288.1:n.570+15A=
ENST00000447102.7:c.585A=	ENSP00000403536.2:p.Glu195=
ENST00000591788.2:c.255+15A=	ENSP00000466341.2:n.255+15A=
NM_000156.5:c.570+15A=	NP_000147.1:n.570+15A=
NM_138924.2:c.585A=	NP_620279.1:p.Glu195=
NM_000156.6:c.570+15A= MANE Select	NP_000147.1:n.570+15A=
NM_138924.3:c.585A=	NP_620279.1:p.Glu195=