Canonical Allele Identifier: CA2340622569

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862053G= , CM000681.2:g.49862053G=	GRCh38
NC_000019.9:g.50365310G= , CM000681.1:g.50365310G=	GRCh37
NC_000019.8:g.55057122G=	NCBI36
NG_027717.1:g.10513C=
NG_050666.1:g.18210G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1179C= MANE Select	ENSP00000323511.2:p.His393=
ENST00000322344.7:c.1179C=	ENSP00000323511.2:p.His393=
ENST00000593706.3:n.613C=
ENST00000593946.5:c.*1106C=	ENSP00000468896.1:n.*1106C=
ENST00000594661.5:n.1680C=
ENST00000596014.5:c.1179C=	ENSP00000472300.1:p.His393=
ENST00000599454.5:n.23C=
ENST00000600573.5:c.1086C=	ENSP00000469826.1:p.His362=
ENST00000600910.5:c.1179C=	ENSP00000473137.1:p.His393=
ENST00000601816.3:n.78C=
ENST00000625216.2:c.260C=	ENSP00000486898.1:p.Thr87=
ENST00000627232.2:c.1099C=	ENSP00000486037.1:n.1099C=
ENST00000631020.2:c.1071C=	ENSP00000486707.1:p.His357=
NM_007254.3:c.1179C=	NP_009185.2:p.His393=
NM_007254.4:c.1179C= MANE Select	NP_009185.2:p.His393=