Canonical Allele Identifier: CA2317699509

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399816A= , CM000681.2:g.1399816A=	GRCh38
NC_000019.9:g.1399815A= , CM000681.1:g.1399815A=	GRCh37
NC_000019.8:g.1350815A=	NCBI36
NG_009785.1:g.6738T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.304T= MANE Select	ENSP00000252288.1:p.Trp102=
ENST00000447102.8:c.304T=	ENSP00000403536.2:p.Trp102=
ENST00000640762.1:c.235T=	ENSP00000492031.1:p.Trp79=
ENST00000252288.6:c.304T=	ENSP00000252288.1:p.Trp102=
ENST00000447102.7:c.304T=	ENSP00000403536.2:p.Trp102=
NM_000156.5:c.304T=	NP_000147.1:p.Trp102=
NM_138924.2:c.304T=	NP_620279.1:p.Trp102=
NM_000156.6:c.304T= MANE Select	NP_000147.1:p.Trp102=
NM_138924.3:c.304T=	NP_620279.1:p.Trp102=