Canonical Allele Identifier: CA2317699035

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399005T= , CM000681.2:g.1399005T=	GRCh38
NC_000019.9:g.1399004T= , CM000681.1:g.1399004T=	GRCh37
NC_000019.8:g.1350004T=	NCBI36
NG_009785.1:g.7549A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000156.6:c.481A= MANE Select	NP_000147.1:p.Lys161=
ENST00000252288.8:c.481A= MANE Select	ENSP00000252288.1:p.Lys161=
NM_000156.5:c.481A=	NP_000147.1:p.Lys161=
NM_138924.2:c.481A=	NP_620279.1:p.Lys161=
NM_138924.3:c.481A=	NP_620279.1:p.Lys161=
ENST00000252288.6:c.481A=	ENSP00000252288.1:p.Lys161=
ENST00000447102.7:c.481A=	ENSP00000403536.2:p.Lys161=
ENST00000447102.8:c.481A=	ENSP00000403536.2:p.Lys161=
ENST00000591788.2:c.166A=	ENSP00000466341.2:p.Lys56=
ENST00000591788.3:c.164A=
ENST00000640164.1:n.314A=
ENST00000640762.1:c.412A=	ENSP00000492031.1:p.Lys138=