Canonical Allele Identifier: CA251963
Gene: PNKD HGNC NCBI

Linked Data

ClinVar Variation Id: 1893
ClinVar RCV Id: RCV000001970 RCV001050396
dbSNP Id: rs121434512
gnomAD v4: 2-218270555-C-T
MyVariant Identifiers: chr2:g.219135278C>T (hg19) chr2:g.218270555C>T (hg38)
PubMed: PMID:15262732 PMID:15496428 PMID:15824259
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218270555C>T , CM000664.2:g.218270555C>T GRCh38
NC_000002.11:g.219135278C>T , CM000664.1:g.219135278C>T GRCh37
NC_000002.10:g.218843522C>T NCBI36
NG_017060.1:g.5164C>T
NG_033036.1:g.4616G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436005.3:c.20C>T ENSP00000414400.3:p.Ala7Val
ENST00000472650.2:n.45C>T
ENST00000684905.1:n.31C>T
ENST00000685415.1:c.20C>T ENSP00000510415.1:p.Ala7Val
ENST00000687736.1:c.20C>T ENSP00000509627.1:p.Ala7Val
ENST00000688179.1:c.20C>T ENSP00000508635.1:p.Ala7Val
ENST00000689816.1:c.20C>T ENSP00000508450.1:p.Ala7Val
ENST00000690891.1:c.20C>T ENSP00000509744.1:p.Ala7Val
ENST00000691220.1:c.20C>T ENSP00000509580.1:p.Ala7Val
ENST00000691799.1:n.71-826C>T
ENST00000692260.1:n.35C>T
ENST00000273077.9:c.20C>T MANE Select ENSP00000273077.4:p.Ala7Val
ENST00000248451.7:c.20C>T ENSP00000248451.3:p.Ala7Val
ENST00000273077.8:c.20C>T ENSP00000273077.4:p.Ala7Val
ENST00000469689.1:n.36C>T
NM_001077399.2:c.20C>T NP_001070867.1:p.Ala7Val
NM_015488.4:c.20C>T NP_056303.3:p.Ala7Val
XM_017003771.1:c.20C>T XP_016859260.1:p.Ala7Val
NM_015488.5:c.20C>T MANE Select NP_056303.3:p.Ala7Val
NM_001077399.3:c.20C>T NP_001070867.1:p.Ala7Val
Search 100 bp 5'
Search 100 bp 3'