Canonical Allele Identifier: CA49447412

Gene: GFPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69329559C>T , CM000664.2:g.69329559C>T	GRCh38
NC_000002.11:g.69556691C>T , CM000664.1:g.69556691C>T	GRCh37
NC_000002.10:g.69410195C>T	NCBI36
NG_029542.1:g.62692G>A , LRG_787:g.62692G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001244710.2:c.1597+125G>A MANE Select	NP_001231639.1:n.1597+125G>A
ENST00000357308.9:c.1597+125G>A MANE Select	ENSP00000349860.4:n.1597+125G>A
NM_001244710.1:c.1597+125G>A , LRG_787t1:c.1597+125G>A	NP_001231639.1:n.1597+125G>A
NM_002056.3:c.1543+125G>A	NP_002047.2:n.1543+125G>A
NM_002056.4:c.1543+125G>A	NP_002047.2:n.1543+125G>A
ENST00000357308.8:c.1597+125G>A	ENSP00000349860.4:n.1597+125G>A
ENST00000361060.5:c.1543+125G>A	ENSP00000354347.4:n.1543+125G>A
ENST00000674438.1:c.1327+125G>A	ENSP00000501469.1:n.1327+125G>A
ENST00000674507.1:c.1543+125G>A	ENSP00000501332.1:n.1543+125G>A
XM_017003801.1:c.1672+125G>A	XP_016859290.1:n.1672+125G>A
XM_017003802.2:c.1618+125G>A	XP_016859291.1:n.1618+125G>A