Canonical Allele Identifier: CA7082013
Gene: PNP HGNC NCBI

Linked Data

dbSNP Id: rs768802856

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472445A>G , CM000676.2:g.20472445A>G GRCh38
NC_000014.8:g.20940604A>G , CM000676.1:g.20940604A>G GRCh37
NC_000014.7:g.20010444A>G NCBI36
NG_009631.1:g.8063A>G , LRG_91:g.8063A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.266A>G ENSP00000452421.2:p.Tyr89Cys
ENST00000556293.6:n.268A>G
ENST00000556754.2:n.1211A>G
ENST00000557229.6:n.268A>G
ENST00000697613.1:c.149A>G ENSP00000513359.1:p.Tyr50Cys
ENST00000697614.1:c.-89A>G ENSP00000513360.1:n.-89A>G
ENST00000697615.1:n.667A>G
ENST00000361505.10:c.149A>G MANE Select ENSP00000354532.6:p.Tyr50Cys
ENST00000361505.9:c.149A>G ENSP00000354532.5:p.Tyr50Cys
ENST00000553418.5:c.149A>G ENSP00000450663.1:p.Tyr50Cys
ENST00000553591.1:c.266A>G ENSP00000452421.1:p.Tyr89Cys
ENST00000554056.5:n.260A>G
ENST00000554065.1:c.-89A>G ENSP00000451108.1:n.-89A>G
ENST00000556293.5:n.268A>G
ENST00000557229.5:n.268A>G
NM_000270.3:c.149A>G , LRG_91t1:c.149A>G NP_000261.2:p.Tyr50Cys
NM_000270.4:c.149A>G MANE Select NP_000261.2:p.Tyr50Cys