Canonical Allele Identifier: CA2576858057

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861760-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861760C>G , CM000681.2:g.49861760C>G	GRCh38
NC_000019.9:g.50365017C>G , CM000681.1:g.50365017C>G	GRCh37
NC_000019.8:g.55056829C>G	NCBI36
NG_027717.1:g.10806G>C
NG_050666.1:g.17917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1298+12G>C MANE Select	ENSP00000323511.2:n.1298+12G>C
ENST00000322344.7:c.1298+12G>C	ENSP00000323511.2:n.1298+12G>C
ENST00000593946.5:c.*1225+12G>C	ENSP00000468896.1:n.*1225+12G>C
ENST00000594661.5:n.1799+12G>C
ENST00000595081.5:n.137G>C
ENST00000596014.5:c.1298+12G>C	ENSP00000472300.1:n.1298+12G>C
ENST00000597965.2:c.5+12G>C	ENSP00000471097.2:n.5+12G>C
ENST00000599454.5:n.154G>C
ENST00000600573.5:c.1205+12G>C	ENSP00000469826.1:n.1205+12G>C
ENST00000600910.5:c.1189-65G>C	ENSP00000473137.1:n.1189-65G>C
ENST00000601816.3:n.209G>C
ENST00000625216.2:c.379+12G>C	ENSP00000486898.1:n.379+12G>C
ENST00000627232.2:c.1218+12G>C	ENSP00000486037.1:n.1218+12G>C
ENST00000631020.2:c.1190+12G>C	ENSP00000486707.1:n.1190+12G>C
NM_007254.3:c.1298+12G>C	NP_009185.2:n.1298+12G>C
NM_007254.4:c.1298+12G>C MANE Select	NP_009185.2:n.1298+12G>C