Canonical Allele Identifier: CA2317699497

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399804G= , CM000681.2:g.1399804G=	GRCh38
NC_000019.9:g.1399803G= , CM000681.1:g.1399803G=	GRCh37
NC_000019.8:g.1350803G=	NCBI36
NG_009785.1:g.6750C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.316C= MANE Select	ENSP00000252288.1:p.Gln106=
ENST00000447102.8:c.316C=	ENSP00000403536.2:p.Gln106=
ENST00000640762.1:c.247C=	ENSP00000492031.1:p.Gln83=
ENST00000252288.6:c.316C=	ENSP00000252288.1:p.Gln106=
ENST00000447102.7:c.316C=	ENSP00000403536.2:p.Gln106=
ENST00000591788.2:c.1C=	ENSP00000466341.2:p.Gln1=
NM_000156.5:c.316C=	NP_000147.1:p.Gln106=
NM_138924.2:c.316C=	NP_620279.1:p.Gln106=
NM_000156.6:c.316C= MANE Select	NP_000147.1:p.Gln106=
NM_138924.3:c.316C=	NP_620279.1:p.Gln106=