Canonical Allele Identifier: CA2340622095
Gene: PNKP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49861546G= , CM000681.2:g.49861546G= GRCh38
NC_000019.9:g.50364803G= , CM000681.1:g.50364803G= GRCh37
NC_000019.8:g.55056615G= NCBI36
NG_027717.1:g.11020C=
NG_050666.1:g.17703G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000322344.8:c.1387-36C= MANE Select ENSP00000323511.2:n.1387-36C=
ENST00000636840.1:c.59+62C=
ENST00000322344.7:c.1387-36C= ENSP00000323511.2:n.1387-36C=
ENST00000593946.5:c.*1314-36C= ENSP00000468896.1:n.*1314-36C=
ENST00000594661.5:n.1888-36C=
ENST00000595081.5:n.290-36C=
ENST00000596014.5:c.1387-36C= ENSP00000472300.1:n.1387-36C=
ENST00000597965.2:c.94-36C= ENSP00000471097.2:n.94-36C=
ENST00000599454.5:n.307-36C=
ENST00000600573.5:c.1294-36C= ENSP00000469826.1:n.1294-36C=
ENST00000600910.5:c.1277-36C= ENSP00000473137.1:n.1277-36C=
ENST00000601816.3:n.423C=
ENST00000625216.2:c.468-36C= ENSP00000486898.1:n.468-36C=
ENST00000627232.2:c.1307-36C= ENSP00000486037.1:n.1307-36C=
ENST00000631020.2:c.1279-36C= ENSP00000486707.1:n.1279-36C=
NM_007254.3:c.1387-36C= NP_009185.2:n.1387-36C=
NM_007254.4:c.1387-36C= MANE Select NP_009185.2:n.1387-36C=