Canonical Allele Identifier: CA2340622766
Gene: PNKP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49862320A= , CM000681.2:g.49862320A= GRCh38
NC_000019.9:g.50365577A= , CM000681.1:g.50365577A= GRCh37
NC_000019.8:g.55057389A= NCBI36
NG_027717.1:g.10246T=
NG_050666.1:g.18477A=

Transcript Alleles

HGVS Amino-acid change
ENST00000322344.8:c.1030-39T= MANE Select ENSP00000323511.2:n.1030-39T=
ENST00000322344.7:c.1030-39T= ENSP00000323511.2:n.1030-39T=
ENST00000593706.3:n.385-39T=
ENST00000593946.5:c.*957-39T= ENSP00000468896.1:n.*957-39T=
ENST00000594661.5:n.1531-39T=
ENST00000596014.5:c.1030-39T= ENSP00000472300.1:n.1030-39T=
ENST00000600573.5:c.937-39T= ENSP00000469826.1:n.937-39T=
ENST00000600910.5:c.1030-39T= ENSP00000473137.1:n.1030-39T=
ENST00000625216.2:c.207+51T= ENSP00000486898.1:n.207+51T=
ENST00000627232.2:c.950-39T= ENSP00000486037.1:n.950-39T=
ENST00000627317.1:c.651-39T=
ENST00000629179.1:n.801-39T=
ENST00000631020.2:c.922-39T= ENSP00000486707.1:n.922-39T=
NM_007254.3:c.1030-39T= NP_009185.2:n.1030-39T=
NM_007254.4:c.1030-39T= MANE Select NP_009185.2:n.1030-39T=