Canonical Allele Identifier: CA2340622066
Gene: PNKP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49861521C= , CM000681.2:g.49861521C= GRCh38
NC_000019.9:g.50364778C= , CM000681.1:g.50364778C= GRCh37
NC_000019.8:g.55056590C= NCBI36
NG_027717.1:g.11045G=
NG_050666.1:g.17678C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000322344.8:c.1387-11G= MANE Select ENSP00000323511.2:n.1387-11G=
ENST00000636840.1:c.59+87G=
ENST00000322344.7:c.1387-11G= ENSP00000323511.2:n.1387-11G=
ENST00000593946.5:c.*1314-11G= ENSP00000468896.1:n.*1314-11G=
ENST00000594661.5:n.1888-11G=
ENST00000595081.5:n.290-11G=
ENST00000596014.5:c.1387-11G= ENSP00000472300.1:n.1387-11G=
ENST00000597965.2:c.94-11G= ENSP00000471097.2:n.94-11G=
ENST00000599454.5:n.307-11G=
ENST00000600573.5:c.1294-11G= ENSP00000469826.1:n.1294-11G=
ENST00000600910.5:c.1277-11G= ENSP00000473137.1:n.1277-11G=
ENST00000601816.3:n.448G=
ENST00000625216.2:c.468-11G= ENSP00000486898.1:n.468-11G=
ENST00000627232.2:c.1307-11G= ENSP00000486037.1:n.1307-11G=
ENST00000631020.2:c.1279-11G= ENSP00000486707.1:n.1279-11G=
NM_007254.3:c.1387-11G= NP_009185.2:n.1387-11G=
NM_007254.4:c.1387-11G= MANE Select NP_009185.2:n.1387-11G=