Canonical Allele Identifier: CA389145513
Gene: PNP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20475088C>A , CM000676.2:g.20475088C>A GRCh38
NC_000014.8:g.20943247C>A , CM000676.1:g.20943247C>A GRCh37
NC_000014.7:g.20013087C>A NCBI36
NG_009631.1:g.10706C>A , LRG_91:g.10706C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553591.2:c.605C>A ENSP00000452421.2:p.Ser202Tyr
ENST00000556293.6:n.2911C>A
ENST00000556754.2:n.3854C>A
ENST00000557229.6:n.917C>A
ENST00000697613.1:c.488C>A ENSP00000513359.1:p.Ser163Tyr
ENST00000697614.1:c.251C>A ENSP00000513360.1:p.Ser84Tyr
ENST00000697615.1:n.1316C>A
ENST00000361505.10:c.488C>A MANE Select ENSP00000354532.6:p.Ser163Tyr
ENST00000361505.9:c.488C>A ENSP00000354532.5:p.Ser163Tyr
ENST00000553591.1:c.605C>A ENSP00000452421.1:p.Ser202Tyr
ENST00000554056.5:n.796C>A
ENST00000556754.1:n.1705C>A
ENST00000557229.5:n.917C>A
NM_000270.3:c.488C>A , LRG_91t1:c.488C>A NP_000261.2:p.Ser163Tyr
NM_000270.4:c.488C>A MANE Select NP_000261.2:p.Ser163Tyr