Canonical Allele Identifier: CA9586646

Gene: PNKP

Linked Data

• dbSNP Id: rs768625129
• ExAC: 19:50365570 C / T
• gnomAD v4: 19-49862313-C-T
• MyVariant Identifiers: chr19:g.50365570C>T (hg19) ; chr19:g.49862313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862313C>T , CM000681.2:g.49862313C>T	GRCh38
NC_000019.9:g.50365570C>T , CM000681.1:g.50365570C>T	GRCh37
NC_000019.8:g.55057382C>T	NCBI36
NG_027717.1:g.10253G>A
NG_050666.1:g.18470C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1030-32G>A MANE Select	ENSP00000323511.2:n.1030-32G>A
ENST00000322344.7:c.1030-32G>A	ENSP00000323511.2:n.1030-32G>A
ENST00000593706.3:n.385-32G>A
ENST00000593946.5:c.*957-32G>A	ENSP00000468896.1:n.*957-32G>A
ENST00000594661.5:n.1531-32G>A
ENST00000596014.5:c.1030-32G>A	ENSP00000472300.1:n.1030-32G>A
ENST00000600573.5:c.937-32G>A	ENSP00000469826.1:n.937-32G>A
ENST00000600910.5:c.1030-32G>A	ENSP00000473137.1:n.1030-32G>A
ENST00000625216.2:c.207+58G>A	ENSP00000486898.1:n.207+58G>A
ENST00000627232.2:c.950-32G>A	ENSP00000486037.1:n.950-32G>A
ENST00000627317.1:c.651-32G>A
ENST00000629179.1:n.801-32G>A
ENST00000631020.2:c.922-32G>A	ENSP00000486707.1:n.922-32G>A
NM_007254.3:c.1030-32G>A	NP_009185.2:n.1030-32G>A
NM_007254.4:c.1030-32G>A MANE Select	NP_009185.2:n.1030-32G>A