Canonical Allele Identifier: CA406886705

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49864205G>C , CM000681.2:g.49864205G>C	GRCh38
NC_000019.9:g.50367462G>C , CM000681.1:g.50367462G>C	GRCh37
NC_000019.8:g.55059274G>C	NCBI36
NG_027717.1:g.8361C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.610C>G MANE Select	NP_009185.2:p.Arg204Gly
ENST00000322344.8:c.610C>G MANE Select	ENSP00000323511.2:p.Arg204Gly
NM_007254.3:c.610C>G	NP_009185.2:p.Arg204Gly
ENST00000322344.7:c.610C>G	ENSP00000323511.2:p.Arg204Gly
ENST00000593946.5:c.*537C>G	ENSP00000468896.1:n.*537C>G
ENST00000594661.5:n.1111C>G
ENST00000596014.5:c.610C>G	ENSP00000472300.1:p.Arg204Gly
ENST00000599543.3:c.610C>G	ENSP00000469848.2:p.Arg204Gly
ENST00000600573.5:c.610C>G	ENSP00000469826.1:p.Arg204Gly
ENST00000600910.5:c.610C>G	ENSP00000473137.1:p.Arg204Gly
ENST00000627232.2:c.530C>G	ENSP00000486037.1:n.530C>G
ENST00000627317.1:c.258-134C>G
ENST00000629179.1:n.381C>G
ENST00000631020.2:c.610C>G	ENSP00000486707.1:p.Arg204Gly
ENST00000636214.1:c.*147C>G	ENSP00000489983.1:n.*147C>G