Canonical Allele Identifier: CA2586460719

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862317-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862317C>G , CM000681.2:g.49862317C>G	GRCh38
NC_000019.9:g.50365574C>G , CM000681.1:g.50365574C>G	GRCh37
NC_000019.8:g.55057386C>G	NCBI36
NG_027717.1:g.10249G>C
NG_050666.1:g.18474C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1030-36G>C MANE Select	ENSP00000323511.2:n.1030-36G>C
ENST00000322344.7:c.1030-36G>C	ENSP00000323511.2:n.1030-36G>C
ENST00000593706.3:n.385-36G>C
ENST00000593946.5:c.*957-36G>C	ENSP00000468896.1:n.*957-36G>C
ENST00000594661.5:n.1531-36G>C
ENST00000596014.5:c.1030-36G>C	ENSP00000472300.1:n.1030-36G>C
ENST00000600573.5:c.937-36G>C	ENSP00000469826.1:n.937-36G>C
ENST00000600910.5:c.1030-36G>C	ENSP00000473137.1:n.1030-36G>C
ENST00000625216.2:c.207+54G>C	ENSP00000486898.1:n.207+54G>C
ENST00000627232.2:c.950-36G>C	ENSP00000486037.1:n.950-36G>C
ENST00000627317.1:c.651-36G>C
ENST00000629179.1:n.801-36G>C
ENST00000631020.2:c.922-36G>C	ENSP00000486707.1:n.922-36G>C
NM_007254.3:c.1030-36G>C	NP_009185.2:n.1030-36G>C
NM_007254.4:c.1030-36G>C MANE Select	NP_009185.2:n.1030-36G>C