Canonical Allele Identifier: CA123673
Gene: PNP HGNC NCBI

Linked Data

ClinVar Variation Id: 13990
ClinVar RCV Id: RCV000015027
dbSNP Id: rs104894450

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20474870A>G , CM000676.2:g.20474870A>G GRCh38
NC_000014.8:g.20943029A>G , CM000676.1:g.20943029A>G GRCh37
NC_000014.7:g.20012869A>G NCBI36
NG_009631.1:g.10488A>G , LRG_91:g.10488A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553591.2:c.500A>G ENSP00000452421.2:p.Asp167Gly
ENST00000556293.6:n.2693A>G
ENST00000556754.2:n.3636A>G
ENST00000557229.6:n.699A>G
ENST00000697613.1:c.383A>G ENSP00000513359.1:p.Asp128Gly
ENST00000697614.1:c.146A>G ENSP00000513360.1:p.Asp49Gly
ENST00000697615.1:n.1098A>G
ENST00000361505.10:c.383A>G MANE Select ENSP00000354532.6:p.Asp128Gly
ENST00000361505.9:c.383A>G ENSP00000354532.5:p.Asp128Gly
ENST00000553591.1:c.500A>G ENSP00000452421.1:p.Asp167Gly
ENST00000554056.5:n.691A>G
ENST00000554065.1:c.146A>G ENSP00000451108.1:p.Asp49Gly
ENST00000556754.1:n.1487A>G
ENST00000557229.5:n.699A>G
NM_000270.3:c.383A>G , LRG_91t1:c.383A>G NP_000261.2:p.Asp128Gly
NM_000270.4:c.383A>G MANE Select NP_000261.2:p.Asp128Gly