Canonical Allele Identifier: CA402994573

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398989A>G , CM000681.2:g.1398989A>G	GRCh38
NC_000019.9:g.1398988A>G , CM000681.1:g.1398988A>G	GRCh37
NC_000019.8:g.1349988A>G	NCBI36
NG_009785.1:g.7565T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000156.6:c.497T>C MANE Select	NP_000147.1:p.Leu166Pro
ENST00000252288.8:c.497T>C MANE Select	ENSP00000252288.1:p.Leu166Pro
NM_000156.5:c.497T>C	NP_000147.1:p.Leu166Pro
NM_138924.2:c.497T>C	NP_620279.1:p.Leu166Pro
NM_138924.3:c.497T>C	NP_620279.1:p.Leu166Pro
ENST00000252288.6:c.497T>C	ENSP00000252288.1:p.Leu166Pro
ENST00000447102.7:c.497T>C	ENSP00000403536.2:p.Leu166Pro
ENST00000447102.8:c.497T>C	ENSP00000403536.2:p.Leu166Pro
ENST00000591788.2:c.182T>C	ENSP00000466341.2:p.Leu61Pro
ENST00000591788.3:c.180T>C
ENST00000640164.1:n.330T>C
ENST00000640762.1:c.428T>C	ENSP00000492031.1:p.Leu143Pro