Canonical Allele Identifier: CA406933234

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861676-C-A
• MyVariant Identifiers: chr19:g.50364933C>A (hg19) ; chr19:g.49861676C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861676C>A , CM000681.2:g.49861676C>A	GRCh38
NC_000019.9:g.50364933C>A , CM000681.1:g.50364933C>A	GRCh37
NC_000019.8:g.55056745C>A	NCBI36
NG_027717.1:g.10890G>T
NG_050666.1:g.17833C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1318G>T MANE Select	ENSP00000323511.2:p.Ala440Ser
ENST00000322344.7:c.1318G>T	ENSP00000323511.2:p.Ala440Ser
ENST00000593946.5:c.*1245G>T	ENSP00000468896.1:n.*1245G>T
ENST00000594661.5:n.1819G>T
ENST00000595081.5:n.221G>T
ENST00000596014.5:c.1318G>T	ENSP00000472300.1:p.Ala440Ser
ENST00000597965.2:c.25G>T	ENSP00000471097.2:p.Ala9Ser
ENST00000599454.5:n.238G>T
ENST00000600573.5:c.1225G>T	ENSP00000469826.1:p.Ala409Ser
ENST00000600910.5:c.1208G>T	ENSP00000473137.1:p.Ser403Ile
ENST00000601816.3:n.293G>T
ENST00000625216.2:c.399G>T	ENSP00000486898.1:n.399G>T
ENST00000627232.2:c.1238G>T	ENSP00000486037.1:n.1238G>T
ENST00000631020.2:c.1210G>T	ENSP00000486707.1:p.Ala404Ser
NM_007254.3:c.1318G>T	NP_009185.2:p.Ala440Ser
NM_007254.4:c.1318G>T MANE Select	NP_009185.2:p.Ala440Ser