Canonical Allele Identifier: CA406878741

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365312G>C (hg19) ; chr19:g.49862055G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1177C>G MANE Select	ENSP00000323511.2:p.His393Asp
ENST00000322344.7:c.1177C>G	ENSP00000323511.2:p.His393Asp
ENST00000593706.3:n.611C>G
ENST00000593946.5:c.*1104C>G	ENSP00000468896.1:n.*1104C>G
ENST00000594661.5:n.1678C>G
ENST00000596014.5:c.1177C>G	ENSP00000472300.1:p.His393Asp
ENST00000599454.5:n.21C>G
ENST00000600573.5:c.1084C>G	ENSP00000469826.1:p.His362Asp
ENST00000600910.5:c.1177C>G	ENSP00000473137.1:p.His393Asp
ENST00000601816.3:n.76C>G
ENST00000625216.2:c.258C>G	ENSP00000486898.1:p.Ser86=
ENST00000627232.2:c.1097C>G	ENSP00000486037.1:n.1097C>G
ENST00000631020.2:c.1069C>G	ENSP00000486707.1:p.His357Asp
NM_007254.3:c.1177C>G	NP_009185.2:p.His393Asp
NM_007254.4:c.1177C>G MANE Select	NP_009185.2:p.His393Asp