Canonical Allele Identifier: CA633895244

Gene: PNKP

Linked Data

• dbSNP Id: rs3739201
• gnomAD v2: 19-50365572-T-C
• MyVariant Identifiers: chr19:g.50365572T>C (hg19) ; chr19:g.49862315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862315T>C , CM000681.2:g.49862315T>C	GRCh38
NC_000019.9:g.50365572T>C , CM000681.1:g.50365572T>C	GRCh37
NC_000019.8:g.55057384T>C	NCBI36
NG_027717.1:g.10251A>G
NG_050666.1:g.18472T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1030-34A>G MANE Select	ENSP00000323511.2:n.1030-34A>G
ENST00000322344.7:c.1030-34A>G	ENSP00000323511.2:n.1030-34A>G
ENST00000593706.3:n.385-34A>G
ENST00000593946.5:c.*957-34A>G	ENSP00000468896.1:n.*957-34A>G
ENST00000594661.5:n.1531-34A>G
ENST00000596014.5:c.1030-34A>G	ENSP00000472300.1:n.1030-34A>G
ENST00000600573.5:c.937-34A>G	ENSP00000469826.1:n.937-34A>G
ENST00000600910.5:c.1030-34A>G	ENSP00000473137.1:n.1030-34A>G
ENST00000625216.2:c.207+56A>G	ENSP00000486898.1:n.207+56A>G
ENST00000627232.2:c.950-34A>G	ENSP00000486037.1:n.950-34A>G
ENST00000627317.1:c.651-34A>G
ENST00000629179.1:n.801-34A>G
ENST00000631020.2:c.922-34A>G	ENSP00000486707.1:n.922-34A>G
NM_007254.3:c.1030-34A>G	NP_009185.2:n.1030-34A>G
NM_007254.4:c.1030-34A>G MANE Select	NP_009185.2:n.1030-34A>G