Canonical Allele Identifier: CA2317699113

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399144T= , CM000681.2:g.1399144T=	GRCh38
NC_000019.9:g.1399143T= , CM000681.1:g.1399143T=	GRCh37
NC_000019.8:g.1350143T=	NCBI36
NG_009785.1:g.7410A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.443A= MANE Select	ENSP00000252288.1:p.Gln148=
ENST00000447102.8:c.443A=	ENSP00000403536.2:p.Gln148=
ENST00000591788.3:c.126A=
ENST00000640164.1:n.276A=
ENST00000640762.1:c.374A=	ENSP00000492031.1:p.Gln125=
ENST00000252288.6:c.443A=	ENSP00000252288.1:p.Gln148=
ENST00000447102.7:c.443A=	ENSP00000403536.2:p.Gln148=
ENST00000591788.2:c.128A=	ENSP00000466341.2:p.Gln43=
NM_000156.5:c.443A=	NP_000147.1:p.Gln148=
NM_138924.2:c.443A=	NP_620279.1:p.Gln148=
NM_000156.6:c.443A= MANE Select	NP_000147.1:p.Gln148=
NM_138924.3:c.443A=	NP_620279.1:p.Gln148=