Canonical Allele Identifier: CA633894411

Gene: PNKP

Linked Data

• dbSNP Id: rs754871104
• gnomAD v2: 19-50364682-G-C
• gnomAD v4: 19-49861425-G-C
• MyVariant Identifiers: chr19:g.50364682G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861425G>C , CM000681.2:g.49861425G>C	GRCh38
NC_000019.9:g.50364682G>C , CM000681.1:g.50364682G>C	GRCh37
NC_000019.8:g.55056494G>C	NCBI36
NG_027717.1:g.11141C>G
NG_050666.1:g.17582G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448+24C>G MANE Select	ENSP00000323511.2:n.1448+24C>G
ENST00000636840.1:c.59+183C>G
ENST00000640501.1:c.54+24C>G
ENST00000322344.7:c.1448+24C>G	ENSP00000323511.2:n.1448+24C>G
ENST00000593946.5:c.*1375+24C>G	ENSP00000468896.1:n.*1375+24C>G
ENST00000594661.5:n.1949+24C>G
ENST00000595081.5:n.351+24C>G
ENST00000596014.5:c.1448+24C>G	ENSP00000472300.1:n.1448+24C>G
ENST00000597965.2:c.179C>G	ENSP00000471097.2:n.179C>G
ENST00000599454.5:n.368+24C>G
ENST00000600573.5:c.1355+24C>G	ENSP00000469826.1:n.1355+24C>G
ENST00000600910.5:c.1338+24C>G	ENSP00000473137.1:n.1338+24C>G
ENST00000601816.3:n.520+24C>G
ENST00000625216.2:c.529+24C>G	ENSP00000486898.1:n.529+24C>G
ENST00000627232.2:c.1368+24C>G	ENSP00000486037.1:n.1368+24C>G
ENST00000631020.2:c.1340+24C>G	ENSP00000486707.1:n.1340+24C>G
NM_007254.3:c.1448+24C>G	NP_009185.2:n.1448+24C>G
NM_007254.4:c.1448+24C>G MANE Select	NP_009185.2:n.1448+24C>G