Canonical Allele Identifier: CA996725315

Gene: PNKP

Linked Data

• dbSNP Id: rs2074778852
• gnomAD v3: 19-49862311-G-A
• gnomAD v4: 19-49862311-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862311G>A , CM000681.2:g.49862311G>A	GRCh38
NC_000019.9:g.50365568G>A , CM000681.1:g.50365568G>A	GRCh37
NC_000019.8:g.55057380G>A	NCBI36
NG_027717.1:g.10255C>T
NG_050666.1:g.18468G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1030-30C>T MANE Select	ENSP00000323511.2:n.1030-30C>T
ENST00000322344.7:c.1030-30C>T	ENSP00000323511.2:n.1030-30C>T
ENST00000593706.3:n.385-30C>T
ENST00000593946.5:c.*957-30C>T	ENSP00000468896.1:n.*957-30C>T
ENST00000594661.5:n.1531-30C>T
ENST00000596014.5:c.1030-30C>T	ENSP00000472300.1:n.1030-30C>T
ENST00000600573.5:c.937-30C>T	ENSP00000469826.1:n.937-30C>T
ENST00000600910.5:c.1030-30C>T	ENSP00000473137.1:n.1030-30C>T
ENST00000625216.2:c.207+60C>T	ENSP00000486898.1:n.207+60C>T
ENST00000627232.2:c.950-30C>T	ENSP00000486037.1:n.950-30C>T
ENST00000627317.1:c.651-30C>T
ENST00000629179.1:n.801-30C>T
ENST00000631020.2:c.922-30C>T	ENSP00000486707.1:n.922-30C>T
NM_007254.3:c.1030-30C>T	NP_009185.2:n.1030-30C>T
NM_007254.4:c.1030-30C>T MANE Select	NP_009185.2:n.1030-30C>T