Canonical Allele Identifier: CA406881289

Gene: PNKP

Linked Data

• dbSNP Id: rs372148913
• gnomAD v3: 19-49862432-G-T
• gnomAD v4: 19-49862432-G-T
• MyVariant Identifiers: chr19:g.50365689G>T (hg19) ; chr19:g.49862432G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862432G>T , CM000681.2:g.49862432G>T	GRCh38
NC_000019.9:g.50365689G>T , CM000681.1:g.50365689G>T	GRCh37
NC_000019.8:g.55057501G>T	NCBI36
NG_027717.1:g.10134C>A
NG_050666.1:g.18589G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.968C>A MANE Select	ENSP00000323511.2:p.Thr323Lys
ENST00000322344.7:c.968C>A	ENSP00000323511.2:p.Thr323Lys
ENST00000593706.3:n.323C>A
ENST00000593946.5:c.*895C>A	ENSP00000468896.1:n.*895C>A
ENST00000594661.5:n.1469C>A
ENST00000596014.5:c.968C>A	ENSP00000472300.1:p.Thr323Lys
ENST00000600573.5:c.936+106C>A	ENSP00000469826.1:n.936+106C>A
ENST00000600910.5:c.968C>A	ENSP00000473137.1:p.Thr323Lys
ENST00000625216.2:c.146C>A	ENSP00000486898.1:p.Thr49Lys
ENST00000627232.2:c.888C>A	ENSP00000486037.1:n.888C>A
ENST00000627317.1:c.589C>A
ENST00000629179.1:n.739C>A
ENST00000631020.2:c.860C>A	ENSP00000486707.1:p.Thr287Lys
NM_007254.3:c.968C>A	NP_009185.2:p.Thr323Lys
NM_007254.4:c.968C>A MANE Select	NP_009185.2:p.Thr323Lys