Canonical Allele Identifier: CA11154524

Gene: GFPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69386826A>G , CM000664.2:g.69386826A>G	GRCh38
NC_000002.11:g.69613958A>G , CM000664.1:g.69613958A>G	GRCh37
NC_000002.10:g.69467462A>G	NCBI36
NG_029542.1:g.5425T>C , LRG_787:g.5425T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001244710.2:c.7+239T>C MANE Select	NP_001231639.1:n.7+239T>C
ENST00000357308.9:c.7+239T>C MANE Select	ENSP00000349860.4:n.7+239T>C
NM_001244710.1:c.7+239T>C , LRG_787t1:c.7+239T>C	NP_001231639.1:n.7+239T>C
NM_002056.3:c.7+239T>C	NP_002047.2:n.7+239T>C
NM_002056.4:c.7+239T>C	NP_002047.2:n.7+239T>C
ENST00000357308.8:c.7+239T>C	ENSP00000349860.4:n.7+239T>C
ENST00000361060.5:c.7+239T>C	ENSP00000354347.4:n.7+239T>C
ENST00000494201.1:n.186+239T>C
ENST00000674438.1:c.7+239T>C	ENSP00000501469.1:n.7+239T>C
ENST00000674507.1:c.7+239T>C	ENSP00000501332.1:n.7+239T>C