Canonical Allele Identifier: CA406932773

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861471-C-G
• MyVariant Identifiers: chr19:g.50364728C>G (hg19) ; chr19:g.49861471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861471C>G , CM000681.2:g.49861471C>G	GRCh38
NC_000019.9:g.50364728C>G , CM000681.1:g.50364728C>G	GRCh37
NC_000019.8:g.55056540C>G	NCBI36
NG_027717.1:g.11095G>C
NG_050666.1:g.17628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1426G>C MANE Select	ENSP00000323511.2:p.Asp476His
ENST00000636840.1:c.59+137G>C
ENST00000640501.1:c.32G>C
ENST00000322344.7:c.1426G>C	ENSP00000323511.2:p.Asp476His
ENST00000593946.5:c.*1353G>C	ENSP00000468896.1:n.*1353G>C
ENST00000594661.5:n.1927G>C
ENST00000595081.5:n.329G>C
ENST00000596014.5:c.1426G>C	ENSP00000472300.1:p.Asp476His
ENST00000597965.2:c.133G>C	ENSP00000471097.2:p.Asp45His
ENST00000599454.5:n.346G>C
ENST00000600573.5:c.1333G>C	ENSP00000469826.1:p.Asp445His
ENST00000600910.5:c.1316G>C	ENSP00000473137.1:p.Arg439Thr
ENST00000601816.3:n.498G>C
ENST00000625216.2:c.507G>C	ENSP00000486898.1:n.507G>C
ENST00000627232.2:c.1346G>C	ENSP00000486037.1:n.1346G>C
ENST00000631020.2:c.1318G>C	ENSP00000486707.1:p.Asp440His
NM_007254.3:c.1426G>C	NP_009185.2:p.Asp476His
NM_007254.4:c.1426G>C MANE Select	NP_009185.2:p.Asp476His