Canonical Allele Identifier: CA309539955

Gene: PNKP

Linked Data

• dbSNP Id: rs895695725
• gnomAD v2: 19-50364979-G-C
• gnomAD v4: 19-49861722-G-C
• MyVariant Identifiers: chr19:g.50364979G>C (hg19) ; chr19:g.49861722G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861722G>C , CM000681.2:g.49861722G>C	GRCh38
NC_000019.9:g.50364979G>C , CM000681.1:g.50364979G>C	GRCh37
NC_000019.8:g.55056791G>C	NCBI36
NG_027717.1:g.10844C>G
NG_050666.1:g.17879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1299-27C>G MANE Select	ENSP00000323511.2:n.1299-27C>G
ENST00000322344.7:c.1299-27C>G	ENSP00000323511.2:n.1299-27C>G
ENST00000593946.5:c.*1226-27C>G	ENSP00000468896.1:n.*1226-27C>G
ENST00000594661.5:n.1800-27C>G
ENST00000595081.5:n.175C>G
ENST00000596014.5:c.1299-27C>G	ENSP00000472300.1:n.1299-27C>G
ENST00000597965.2:c.6-27C>G	ENSP00000471097.2:n.6-27C>G
ENST00000599454.5:n.192C>G
ENST00000600573.5:c.1206-27C>G	ENSP00000469826.1:n.1206-27C>G
ENST00000600910.5:c.1189-27C>G	ENSP00000473137.1:n.1189-27C>G
ENST00000601816.3:n.247C>G
ENST00000625216.2:c.380-27C>G	ENSP00000486898.1:n.380-27C>G
ENST00000627232.2:c.1219-27C>G	ENSP00000486037.1:n.1219-27C>G
ENST00000631020.2:c.1191-27C>G	ENSP00000486707.1:n.1191-27C>G
NM_007254.3:c.1299-27C>G	NP_009185.2:n.1299-27C>G
NM_007254.4:c.1299-27C>G MANE Select	NP_009185.2:n.1299-27C>G