Canonical Allele Identifier: CA2586460728

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862323-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862323C>A , CM000681.2:g.49862323C>A	GRCh38
NC_000019.9:g.50365580C>A , CM000681.1:g.50365580C>A	GRCh37
NC_000019.8:g.55057392C>A	NCBI36
NG_027717.1:g.10243G>T
NG_050666.1:g.18480C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1030-42G>T MANE Select	ENSP00000323511.2:n.1030-42G>T
ENST00000322344.7:c.1030-42G>T	ENSP00000323511.2:n.1030-42G>T
ENST00000593706.3:n.385-42G>T
ENST00000593946.5:c.*957-42G>T	ENSP00000468896.1:n.*957-42G>T
ENST00000594661.5:n.1531-42G>T
ENST00000596014.5:c.1030-42G>T	ENSP00000472300.1:n.1030-42G>T
ENST00000600573.5:c.937-42G>T	ENSP00000469826.1:n.937-42G>T
ENST00000600910.5:c.1030-42G>T	ENSP00000473137.1:n.1030-42G>T
ENST00000625216.2:c.207+48G>T	ENSP00000486898.1:n.207+48G>T
ENST00000627232.2:c.950-42G>T	ENSP00000486037.1:n.950-42G>T
ENST00000627317.1:c.651-42G>T
ENST00000629179.1:n.801-42G>T
ENST00000631020.2:c.922-42G>T	ENSP00000486707.1:n.922-42G>T
NM_007254.3:c.1030-42G>T	NP_009185.2:n.1030-42G>T
NM_007254.4:c.1030-42G>T MANE Select	NP_009185.2:n.1030-42G>T