Canonical Allele Identifier: CA2317699111

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399140G= , CM000681.2:g.1399140G=	GRCh38
NC_000019.9:g.1399139G= , CM000681.1:g.1399139G=	GRCh37
NC_000019.8:g.1350139G=	NCBI36
NG_009785.1:g.7414C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.447C= MANE Select	ENSP00000252288.1:p.Phe149=
ENST00000447102.8:c.447C=	ENSP00000403536.2:p.Phe149=
ENST00000591788.3:c.130C=
ENST00000640164.1:n.280C=
ENST00000640762.1:c.378C=	ENSP00000492031.1:p.Phe126=
ENST00000252288.6:c.447C=	ENSP00000252288.1:p.Phe149=
ENST00000447102.7:c.447C=	ENSP00000403536.2:p.Phe149=
ENST00000591788.2:c.132C=	ENSP00000466341.2:p.Phe44=
NM_000156.5:c.447C=	NP_000147.1:p.Phe149=
NM_138924.2:c.447C=	NP_620279.1:p.Phe149=
NM_000156.6:c.447C= MANE Select	NP_000147.1:p.Phe149=
NM_138924.3:c.447C=	NP_620279.1:p.Phe149=