Canonical Allele Identifier: CA2317699042

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399017A= , CM000681.2:g.1399017A=	GRCh38
NC_000019.9:g.1399016A= , CM000681.1:g.1399016A=	GRCh37
NC_000019.8:g.1350016A=	NCBI36
NG_009785.1:g.7537T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.469T= MANE Select	ENSP00000252288.1:p.Phe157=
ENST00000447102.8:c.469T=	ENSP00000403536.2:p.Phe157=
ENST00000591788.3:c.152T=
ENST00000640164.1:n.302T=
ENST00000640762.1:c.400T=	ENSP00000492031.1:p.Phe134=
ENST00000252288.6:c.469T=	ENSP00000252288.1:p.Phe157=
ENST00000447102.7:c.469T=	ENSP00000403536.2:p.Phe157=
ENST00000591788.2:c.154T=	ENSP00000466341.2:p.Phe52=
NM_000156.5:c.469T=	NP_000147.1:p.Phe157=
NM_138924.2:c.469T=	NP_620279.1:p.Phe157=
NM_000156.6:c.469T= MANE Select	NP_000147.1:p.Phe157=
NM_138924.3:c.469T=	NP_620279.1:p.Phe157=