Canonical Allele Identifier: CA9586605

Gene: PNKP

Linked Data

• dbSNP Id: rs774081821
• ExAC: 19:50365436 A / G
• gnomAD v2: 19-50365436-A-G
• gnomAD v4: 19-49862179-A-G
• MyVariant Identifiers: chr19:g.50365436A>G (hg19) ; chr19:g.49862179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862179A>G , CM000681.2:g.49862179A>G	GRCh38
NC_000019.9:g.50365436A>G , CM000681.1:g.50365436A>G	GRCh37
NC_000019.8:g.55057248A>G	NCBI36
NG_027717.1:g.10387T>C
NG_050666.1:g.18336A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1126+6T>C MANE Select	ENSP00000323511.2:n.1126+6T>C
ENST00000322344.7:c.1126+6T>C	ENSP00000323511.2:n.1126+6T>C
ENST00000593706.3:n.487T>C
ENST00000593946.5:c.*1053+6T>C	ENSP00000468896.1:n.*1053+6T>C
ENST00000594661.5:n.1627+6T>C
ENST00000596014.5:c.1126+6T>C	ENSP00000472300.1:n.1126+6T>C
ENST00000600573.5:c.1033+6T>C	ENSP00000469826.1:n.1033+6T>C
ENST00000600910.5:c.1126+6T>C	ENSP00000473137.1:n.1126+6T>C
ENST00000601816.3:n.25+6T>C
ENST00000625216.2:c.208-74T>C	ENSP00000486898.1:n.208-74T>C
ENST00000627232.2:c.1046+6T>C	ENSP00000486037.1:n.1046+6T>C
ENST00000627317.1:c.747+6T>C
ENST00000631020.2:c.1018+6T>C	ENSP00000486707.1:n.1018+6T>C
NM_007254.3:c.1126+6T>C	NP_009185.2:n.1126+6T>C
NM_007254.4:c.1126+6T>C MANE Select	NP_009185.2:n.1126+6T>C