Canonical Allele Identifier: CA347130266

Gene: GFPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69354563C>T , CM000664.2:g.69354563C>T	GRCh38
NC_000002.11:g.69581695C>T , CM000664.1:g.69581695C>T	GRCh37
NC_000002.10:g.69435199C>T	NCBI36
NG_029542.1:g.37688G>A , LRG_787:g.37688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357308.9:c.611G>A MANE Select	ENSP00000349860.4:p.Gly204Asp
ENST00000674438.1:c.395G>A	ENSP00000501469.1:p.Gly132Asp
ENST00000674507.1:c.611G>A	ENSP00000501332.1:p.Gly204Asp
ENST00000357308.8:c.611G>A	ENSP00000349860.4:p.Gly204Asp
ENST00000361060.5:c.611G>A	ENSP00000354347.4:p.Gly204Asp
ENST00000493759.2:n.310G>A
NM_001244710.1:c.611G>A , LRG_787t1:c.611G>A	NP_001231639.1:p.Gly204Asp
NM_002056.3:c.611G>A	NP_002047.2:p.Gly204Asp
XM_017003801.1:c.686G>A	XP_016859290.1:p.Gly229Asp
XM_017003802.2:c.686G>A	XP_016859291.1:p.Gly229Asp
NM_001244710.2:c.611G>A MANE Select	NP_001231639.1:p.Gly204Asp
NM_002056.4:c.611G>A	NP_002047.2:p.Gly204Asp