Canonical Allele Identifier: CA2340622642

Gene: PNKP

Linked Data

• dbSNP Id: rs748938228
• gnomAD v4: 19-49862162-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862162G>A , CM000681.2:g.49862162G>A	GRCh38
NC_000019.9:g.50365419G>A , CM000681.1:g.50365419G>A	GRCh37
NC_000019.8:g.55057231G>A	NCBI36
NG_027717.1:g.10404C>T
NG_050666.1:g.18319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1126+23C>T MANE Select	ENSP00000323511.2:n.1126+23C>T
ENST00000322344.7:c.1126+23C>T	ENSP00000323511.2:n.1126+23C>T
ENST00000593706.3:n.504C>T
ENST00000593946.5:c.*1053+23C>T	ENSP00000468896.1:n.*1053+23C>T
ENST00000594661.5:n.1627+23C>T
ENST00000596014.5:c.1126+23C>T	ENSP00000472300.1:n.1126+23C>T
ENST00000600573.5:c.1033+23C>T	ENSP00000469826.1:n.1033+23C>T
ENST00000600910.5:c.1126+23C>T	ENSP00000473137.1:n.1126+23C>T
ENST00000601816.3:n.25+23C>T
ENST00000625216.2:c.208-57C>T	ENSP00000486898.1:n.208-57C>T
ENST00000627232.2:c.1046+23C>T	ENSP00000486037.1:n.1046+23C>T
ENST00000627317.1:c.747+23C>T
ENST00000631020.2:c.1018+23C>T	ENSP00000486707.1:n.1018+23C>T
NM_007254.3:c.1126+23C>T	NP_009185.2:n.1126+23C>T
NM_007254.4:c.1126+23C>T MANE Select	NP_009185.2:n.1126+23C>T