Canonical Allele Identifier: CA2340622306

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861758C= , CM000681.2:g.49861758C=	GRCh38
NC_000019.9:g.50365015C= , CM000681.1:g.50365015C=	GRCh37
NC_000019.8:g.55056827C=	NCBI36
NG_027717.1:g.10808G=
NG_050666.1:g.17915C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1298+14G= MANE Select	ENSP00000323511.2:n.1298+14G=
ENST00000322344.7:c.1298+14G=	ENSP00000323511.2:n.1298+14G=
ENST00000593946.5:c.*1225+14G=	ENSP00000468896.1:n.*1225+14G=
ENST00000594661.5:n.1799+14G=
ENST00000595081.5:n.139G=
ENST00000596014.5:c.1298+14G=	ENSP00000472300.1:n.1298+14G=
ENST00000597965.2:c.5+14G=	ENSP00000471097.2:n.5+14G=
ENST00000599454.5:n.156G=
ENST00000600573.5:c.1205+14G=	ENSP00000469826.1:n.1205+14G=
ENST00000600910.5:c.1189-63G=	ENSP00000473137.1:n.1189-63G=
ENST00000601816.3:n.211G=
ENST00000625216.2:c.379+14G=	ENSP00000486898.1:n.379+14G=
ENST00000627232.2:c.1218+14G=	ENSP00000486037.1:n.1218+14G=
ENST00000631020.2:c.1190+14G=	ENSP00000486707.1:n.1190+14G=
NM_007254.3:c.1298+14G=	NP_009185.2:n.1298+14G=
NM_007254.4:c.1298+14G= MANE Select	NP_009185.2:n.1298+14G=