Canonical Allele Identifier: CA2340622032

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861485T= , CM000681.2:g.49861485T=	GRCh38
NC_000019.9:g.50364742T= , CM000681.1:g.50364742T=	GRCh37
NC_000019.8:g.55056554T=	NCBI36
NG_027717.1:g.11081A=
NG_050666.1:g.17642T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1412A= MANE Select	ENSP00000323511.2:p.His471=
ENST00000636840.1:c.59+123A=
ENST00000640501.1:c.18A=
ENST00000322344.7:c.1412A=	ENSP00000323511.2:p.His471=
ENST00000593946.5:c.*1339A=	ENSP00000468896.1:n.*1339A=
ENST00000594661.5:n.1913A=
ENST00000595081.5:n.315A=
ENST00000596014.5:c.1412A=	ENSP00000472300.1:p.His471=
ENST00000597965.2:c.119A=	ENSP00000471097.2:p.His40=
ENST00000599454.5:n.332A=
ENST00000600573.5:c.1319A=	ENSP00000469826.1:p.His440=
ENST00000600910.5:c.1302A=	ENSP00000473137.1:p.Ser434=
ENST00000601816.3:n.484A=
ENST00000625216.2:c.493A=	ENSP00000486898.1:n.493A=
ENST00000627232.2:c.1332A=	ENSP00000486037.1:n.1332A=
ENST00000631020.2:c.1304A=	ENSP00000486707.1:p.His435=
NM_007254.3:c.1412A=	NP_009185.2:p.His471=
NM_007254.4:c.1412A= MANE Select	NP_009185.2:p.His471=