Canonical Allele Identifier: CA123677
Gene: PNP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13992
dbSNP Id: rs1049564

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472447G>A , CM000676.2:g.20472447G>A GRCh38
NC_000014.8:g.20940606G>A , CM000676.1:g.20940606G>A GRCh37
NC_000014.7:g.20010446G>A NCBI36
NG_009631.1:g.8065G>A , LRG_91:g.8065G>A

Transcript Alleles

HGVS Amino-acid change
NM_000270.3:c.151G>A , LRG_91t1:c.151G>A NP_000261.2:p.Gly51Ser
ENST00000361505.9:c.151G>A ENSP00000354532.5:p.Gly51Ser
ENST00000553418.5:c.151G>A ENSP00000450663.1:p.Gly51Ser
ENST00000553591.1:c.268G>A ENSP00000452421.1:p.Gly90Ser
ENST00000554056.5:n.262G>A
ENST00000554065.1:c.-87G>A ENSP00000451108.1:p.=
ENST00000556293.5:n.270G>A
ENST00000557229.5:n.270G>A