Canonical Allele Identifier: CA485450754
Gene: PNP HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.20943153C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20474994C>G , CM000676.2:g.20474994C>G GRCh38
NC_000014.8:g.20943153C>G , CM000676.1:g.20943153C>G GRCh37
NC_000014.7:g.20012993C>G NCBI36
NG_009631.1:g.10612C>G , LRG_91:g.10612C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553591.2:c.578+46C>G ENSP00000452421.2:n.578+46C>G
ENST00000556293.6:n.2817C>G
ENST00000556754.2:n.3760C>G
ENST00000557229.6:n.823C>G
ENST00000697613.1:c.461+46C>G ENSP00000513359.1:n.461+46C>G
ENST00000697614.1:c.224+46C>G ENSP00000513360.1:n.224+46C>G
ENST00000697615.1:n.1222C>G
ENST00000361505.10:c.461+46C>G MANE Select ENSP00000354532.6:n.461+46C>G
ENST00000361505.9:c.461+46C>G ENSP00000354532.5:n.461+46C>G
ENST00000553591.1:c.578+46C>G ENSP00000452421.1:n.578+46C>G
ENST00000554056.5:n.769+46C>G
ENST00000556754.1:n.1611C>G
ENST00000557229.5:n.823C>G
NM_000270.3:c.461+46C>G , LRG_91t1:c.461+46C>G NP_000261.2:n.461+46C>G
NM_000270.4:c.461+46C>G MANE Select NP_000261.2:n.461+46C>G