Canonical Allele Identifier: CA2340622570

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862055G= , CM000681.2:g.49862055G=	GRCh38
NC_000019.9:g.50365312G= , CM000681.1:g.50365312G=	GRCh37
NC_000019.8:g.55057124G=	NCBI36
NG_027717.1:g.10511C=
NG_050666.1:g.18212G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1177C= MANE Select	ENSP00000323511.2:p.His393=
ENST00000322344.7:c.1177C=	ENSP00000323511.2:p.His393=
ENST00000593706.3:n.611C=
ENST00000593946.5:c.*1104C=	ENSP00000468896.1:n.*1104C=
ENST00000594661.5:n.1678C=
ENST00000596014.5:c.1177C=	ENSP00000472300.1:p.His393=
ENST00000599454.5:n.21C=
ENST00000600573.5:c.1084C=	ENSP00000469826.1:p.His362=
ENST00000600910.5:c.1177C=	ENSP00000473137.1:p.His393=
ENST00000601816.3:n.76C=
ENST00000625216.2:c.258C=	ENSP00000486898.1:p.Ser86=
ENST00000627232.2:c.1097C=	ENSP00000486037.1:n.1097C=
ENST00000631020.2:c.1069C=	ENSP00000486707.1:p.His357=
NM_007254.3:c.1177C=	NP_009185.2:p.His393=
NM_007254.4:c.1177C= MANE Select	NP_009185.2:p.His393=