Canonical Allele Identifier: CA2122045082
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20475000T= , CM000676.2:g.20475000T= GRCh38
NC_000014.8:g.20943159T= , CM000676.1:g.20943159T= GRCh37
NC_000014.7:g.20012999T= NCBI36
NG_009631.1:g.10618T= , LRG_91:g.10618T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553591.2:c.578+52T= ENSP00000452421.2:n.578+52T=
ENST00000556293.6:n.2823T=
ENST00000556754.2:n.3766T=
ENST00000557229.6:n.829T=
ENST00000697613.1:c.461+52T= ENSP00000513359.1:n.461+52T=
ENST00000697614.1:c.224+52T= ENSP00000513360.1:n.224+52T=
ENST00000697615.1:n.1228T=
ENST00000361505.10:c.461+52T= MANE Select ENSP00000354532.6:n.461+52T=
ENST00000361505.9:c.461+52T= ENSP00000354532.5:n.461+52T=
ENST00000553591.1:c.578+52T= ENSP00000452421.1:n.578+52T=
ENST00000554056.5:n.769+52T=
ENST00000556754.1:n.1617T=
ENST00000557229.5:n.829T=
NM_000270.3:c.461+52T= , LRG_91t1:c.461+52T= NP_000261.2:n.461+52T=
NM_000270.4:c.461+52T= MANE Select NP_000261.2:n.461+52T=