Canonical Allele Identifier: CA406880931
Gene: PNKP HGNC NCBI

Linked Data

dbSNP Id: rs1354687589
gnomAD v2: 19-50365664-C-T
gnomAD v4: 19-49862407-C-T
MyVariant Identifiers: chr19:g.50365664C>T (hg19) chr19:g.49862407C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49862407C>T , CM000681.2:g.49862407C>T GRCh38
NC_000019.9:g.50365664C>T , CM000681.1:g.50365664C>T GRCh37
NC_000019.8:g.55057476C>T NCBI36
NG_027717.1:g.10159G>A
NG_050666.1:g.18564C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000322344.8:c.993G>A MANE Select ENSP00000323511.2:p.Trp331Ter
ENST00000322344.7:c.993G>A ENSP00000323511.2:p.Trp331Ter
ENST00000593706.3:n.348G>A
ENST00000593946.5:c.*920G>A ENSP00000468896.1:n.*920G>A
ENST00000594661.5:n.1494G>A
ENST00000596014.5:c.993G>A ENSP00000472300.1:p.Trp331Ter
ENST00000600573.5:c.937-126G>A ENSP00000469826.1:n.937-126G>A
ENST00000600910.5:c.993G>A ENSP00000473137.1:p.Trp331Ter
ENST00000625216.2:c.171G>A ENSP00000486898.1:p.Trp57Ter
ENST00000627232.2:c.913G>A ENSP00000486037.1:n.913G>A
ENST00000627317.1:c.614G>A
ENST00000629179.1:n.764G>A
ENST00000631020.2:c.885G>A ENSP00000486707.1:p.Trp295Ter
NM_007254.3:c.993G>A NP_009185.2:p.Trp331Ter
NM_007254.4:c.993G>A MANE Select NP_009185.2:p.Trp331Ter
Search 100 bp 5'
Search 100 bp 3'