Canonical Allele Identifier: CA2340622561

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862039C= , CM000681.2:g.49862039C=	GRCh38
NC_000019.9:g.50365296C= , CM000681.1:g.50365296C=	GRCh37
NC_000019.8:g.55057108C=	NCBI36
NG_027717.1:g.10527G=
NG_050666.1:g.18196C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1188+5G= MANE Select	ENSP00000323511.2:n.1188+5G=
ENST00000322344.7:c.1188+5G=	ENSP00000323511.2:n.1188+5G=
ENST00000593706.3:n.627G=
ENST00000593946.5:c.*1115+5G=	ENSP00000468896.1:n.*1115+5G=
ENST00000594661.5:n.1689+5G=
ENST00000596014.5:c.1188+5G=	ENSP00000472300.1:n.1188+5G=
ENST00000599454.5:n.32+5G=
ENST00000600573.5:c.1095+5G=	ENSP00000469826.1:n.1095+5G=
ENST00000600910.5:c.1188+5G=	ENSP00000473137.1:n.1188+5G=
ENST00000601816.3:n.87+5G=
ENST00000625216.2:c.269+5G=	ENSP00000486898.1:n.269+5G=
ENST00000627232.2:c.1108+5G=	ENSP00000486037.1:n.1108+5G=
ENST00000631020.2:c.1080+5G=	ENSP00000486707.1:n.1080+5G=
NM_007254.3:c.1188+5G=	NP_009185.2:n.1188+5G=
NM_007254.4:c.1188+5G= MANE Select	NP_009185.2:n.1188+5G=