Canonical Allele Identifier: CA1693866

Gene: GFPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69358371A>C , CM000664.2:g.69358371A>C	GRCh38
NC_000002.11:g.69585503A>C , CM000664.1:g.69585503A>C	GRCh37
NC_000002.10:g.69439007A>C	NCBI36
NG_029542.1:g.33880T>G , LRG_787:g.33880T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001244710.2:c.501T>G MANE Select	NP_001231639.1:p.Asp167Glu
ENST00000357308.9:c.501T>G MANE Select	ENSP00000349860.4:p.Asp167Glu
NM_001244710.1:c.501T>G , LRG_787t1:c.501T>G	NP_001231639.1:p.Asp167Glu
NM_002056.3:c.501T>G	NP_002047.2:p.Asp167Glu
NM_002056.4:c.501T>G	NP_002047.2:p.Asp167Glu
ENST00000357308.8:c.501T>G	ENSP00000349860.4:p.Asp167Glu
ENST00000361060.5:c.501T>G	ENSP00000354347.4:p.Asp167Glu
ENST00000493759.2:n.200T>G
ENST00000674438.1:c.285T>G	ENSP00000501469.1:p.Asp95Glu
ENST00000674507.1:c.501T>G	ENSP00000501332.1:p.Asp167Glu
XM_017003801.1:c.576T>G	XP_016859290.1:p.Asp192Glu
XM_017003802.2:c.576T>G	XP_016859291.1:p.Asp192Glu