Canonical Allele Identifier: CA2586460469

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861725-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861725C>A , CM000681.2:g.49861725C>A	GRCh38
NC_000019.9:g.50364982C>A , CM000681.1:g.50364982C>A	GRCh37
NC_000019.8:g.55056794C>A	NCBI36
NG_027717.1:g.10841G>T
NG_050666.1:g.17882C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1299-30G>T MANE Select	ENSP00000323511.2:n.1299-30G>T
ENST00000322344.7:c.1299-30G>T	ENSP00000323511.2:n.1299-30G>T
ENST00000593946.5:c.*1226-30G>T	ENSP00000468896.1:n.*1226-30G>T
ENST00000594661.5:n.1800-30G>T
ENST00000595081.5:n.172G>T
ENST00000596014.5:c.1299-30G>T	ENSP00000472300.1:n.1299-30G>T
ENST00000597965.2:c.6-30G>T	ENSP00000471097.2:n.6-30G>T
ENST00000599454.5:n.189G>T
ENST00000600573.5:c.1206-30G>T	ENSP00000469826.1:n.1206-30G>T
ENST00000600910.5:c.1189-30G>T	ENSP00000473137.1:n.1189-30G>T
ENST00000601816.3:n.244G>T
ENST00000625216.2:c.380-30G>T	ENSP00000486898.1:n.380-30G>T
ENST00000627232.2:c.1219-30G>T	ENSP00000486037.1:n.1219-30G>T
ENST00000631020.2:c.1191-30G>T	ENSP00000486707.1:n.1191-30G>T
NM_007254.3:c.1299-30G>T	NP_009185.2:n.1299-30G>T
NM_007254.4:c.1299-30G>T MANE Select	NP_009185.2:n.1299-30G>T