Canonical Allele Identifier: CA347127758

Gene: GFPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69348219C>T , CM000664.2:g.69348219C>T	GRCh38
NC_000002.11:g.69575351C>T , CM000664.1:g.69575351C>T	GRCh37
NC_000002.10:g.69428855C>T	NCBI36
NG_029542.1:g.44032G>A , LRG_787:g.44032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357308.9:c.961G>A MANE Select	ENSP00000349860.4:p.Gly321Arg
ENST00000674438.1:c.691G>A	ENSP00000501469.1:p.Gly231Arg
ENST00000674507.1:c.907G>A	ENSP00000501332.1:p.Gly303Arg
ENST00000357308.8:c.961G>A	ENSP00000349860.4:p.Gly321Arg
ENST00000361060.5:c.907G>A	ENSP00000354347.4:p.Gly303Arg
NM_001244710.1:c.961G>A , LRG_787t1:c.961G>A	NP_001231639.1:p.Gly321Arg
NM_002056.3:c.907G>A	NP_002047.2:p.Gly303Arg
XM_017003801.1:c.1036G>A	XP_016859290.1:p.Gly346Arg
XM_017003802.2:c.982G>A	XP_016859291.1:p.Gly328Arg
NM_001244710.2:c.961G>A MANE Select	NP_001231639.1:p.Gly321Arg
NM_002056.4:c.907G>A	NP_002047.2:p.Gly303Arg