Canonical Allele Identifier: CA123680
Gene: PNP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13993
ClinVar RCV Id: RCV000015030
dbSNP Id: rs104894452

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20475175A>G , CM000676.2:g.20475175A>G GRCh38
NC_000014.7:g.20013174A>G NCBI36
NC_000014.8:g.20943334A>G , CM000676.1:g.20943334A>G GRCh37
NG_009631.1:g.10793A>G , LRG_91:g.10793A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361505.9:c.575A>G ENSP00000354532.5:p.Tyr192Cys
ENST00000554056.5:n.883A>G
ENST00000556754.1:n.1792A>G
NM_000270.3:c.575A>G , LRG_91t1:c.575A>G NP_000261.2:p.Tyr192Cys