Canonical Allele Identifier: CA309539796

Gene: PNKP

Linked Data

• dbSNP Id: rs201946232
• gnomAD v2: 19-50364799-A-G
• gnomAD v4: 19-49861542-A-G
• MyVariant Identifiers: chr19:g.50364799A>G (hg19) ; chr19:g.50364799_50364816delinsGGGGGTCAGGGGAGGAGG (hg19) ; chr19:g.49861542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861542A>G , CM000681.2:g.49861542A>G	GRCh38
NC_000019.9:g.50364799A>G , CM000681.1:g.50364799A>G	GRCh37
NC_000019.8:g.55056611A>G	NCBI36
NG_027717.1:g.11024T>C
NG_050666.1:g.17699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-32T>C MANE Select	ENSP00000323511.2:n.1387-32T>C
ENST00000636840.1:c.59+66T>C
ENST00000322344.7:c.1387-32T>C	ENSP00000323511.2:n.1387-32T>C
ENST00000593946.5:c.*1314-32T>C	ENSP00000468896.1:n.*1314-32T>C
ENST00000594661.5:n.1888-32T>C
ENST00000595081.5:n.290-32T>C
ENST00000596014.5:c.1387-32T>C	ENSP00000472300.1:n.1387-32T>C
ENST00000597965.2:c.94-32T>C	ENSP00000471097.2:n.94-32T>C
ENST00000599454.5:n.307-32T>C
ENST00000600573.5:c.1294-32T>C	ENSP00000469826.1:n.1294-32T>C
ENST00000600910.5:c.1277-32T>C	ENSP00000473137.1:n.1277-32T>C
ENST00000601816.3:n.427T>C
ENST00000625216.2:c.468-32T>C	ENSP00000486898.1:n.468-32T>C
ENST00000627232.2:c.1307-32T>C	ENSP00000486037.1:n.1307-32T>C
ENST00000631020.2:c.1279-32T>C	ENSP00000486707.1:n.1279-32T>C
NM_007254.3:c.1387-32T>C	NP_009185.2:n.1387-32T>C
NM_007254.4:c.1387-32T>C MANE Select	NP_009185.2:n.1387-32T>C