Canonical Allele Identifier: CA2340622640

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862161C= , CM000681.2:g.49862161C=	GRCh38
NC_000019.9:g.50365418C= , CM000681.1:g.50365418C=	GRCh37
NC_000019.8:g.55057230C=	NCBI36
NG_027717.1:g.10405G=
NG_050666.1:g.18318C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1126+24G= MANE Select	ENSP00000323511.2:n.1126+24G=
ENST00000322344.7:c.1126+24G=	ENSP00000323511.2:n.1126+24G=
ENST00000593706.3:n.505G=
ENST00000593946.5:c.*1053+24G=	ENSP00000468896.1:n.*1053+24G=
ENST00000594661.5:n.1627+24G=
ENST00000596014.5:c.1126+24G=	ENSP00000472300.1:n.1126+24G=
ENST00000600573.5:c.1033+24G=	ENSP00000469826.1:n.1033+24G=
ENST00000600910.5:c.1126+24G=	ENSP00000473137.1:n.1126+24G=
ENST00000601816.3:n.25+24G=
ENST00000625216.2:c.208-56G=	ENSP00000486898.1:n.208-56G=
ENST00000627232.2:c.1046+24G=	ENSP00000486037.1:n.1046+24G=
ENST00000627317.1:c.747+24G=
ENST00000631020.2:c.1018+24G=	ENSP00000486707.1:n.1018+24G=
NM_007254.3:c.1126+24G=	NP_009185.2:n.1126+24G=
NM_007254.4:c.1126+24G= MANE Select	NP_009185.2:n.1126+24G=