Canonical Allele Identifier: CA389145580

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475120G>A , CM000676.2:g.20475120G>A	GRCh38
NC_000014.8:g.20943279G>A , CM000676.1:g.20943279G>A	GRCh37
NC_000014.7:g.20013119G>A	NCBI36
NG_009631.1:g.10738G>A , LRG_91:g.10738G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000270.4:c.520G>A MANE Select	NP_000261.2:p.Ala174Thr
ENST00000361505.10:c.520G>A MANE Select	ENSP00000354532.6:p.Ala174Thr
NM_000270.3:c.520G>A , LRG_91t1:c.520G>A	NP_000261.2:p.Ala174Thr
ENST00000361505.9:c.520G>A	ENSP00000354532.5:p.Ala174Thr
ENST00000553591.1:c.637G>A	ENSP00000452421.1:p.Ala213Thr
ENST00000553591.2:c.637G>A	ENSP00000452421.2:p.Ala213Thr
ENST00000554056.5:n.828G>A
ENST00000556293.6:n.2943G>A
ENST00000556754.1:n.1737G>A
ENST00000556754.2:n.3886G>A
ENST00000557229.5:n.949G>A
ENST00000557229.6:n.949G>A
ENST00000697613.1:c.520G>A	ENSP00000513359.1:p.Ala174Thr
ENST00000697614.1:c.283G>A	ENSP00000513360.1:p.Ala95Thr
ENST00000697615.1:n.1348G>A