Canonical Allele Identifier: CA251962
Gene: PNKD HGNC NCBI

Linked Data

ClinVar Variation Id: 1892
ClinVar RCV Id: RCV000001969 RCV000414943 RCV001092425 RCV002512664
dbSNP Id: rs121434511
gnomAD v4: 2-218270561-C-T
MyVariant Identifiers: chr2:g.219135284C>T (hg19) chr2:g.218270561C>T (hg38)
PubMed: PMID:8659518 PMID:9490305 PMID:15262732 PMID:15496428 PMID:15824259 PMID:16216955
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218270561C>T , CM000664.2:g.218270561C>T GRCh38
NC_000002.11:g.219135284C>T , CM000664.1:g.219135284C>T GRCh37
NC_000002.10:g.218843528C>T NCBI36
NG_017060.1:g.5170C>T
NG_033036.1:g.4610G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436005.3:c.26C>T ENSP00000414400.3:p.Ala9Val
ENST00000472650.2:n.51C>T
ENST00000684905.1:n.37C>T
ENST00000685415.1:c.26C>T ENSP00000510415.1:p.Ala9Val
ENST00000687736.1:c.26C>T ENSP00000509627.1:p.Ala9Val
ENST00000688179.1:c.26C>T ENSP00000508635.1:p.Ala9Val
ENST00000689816.1:c.26C>T ENSP00000508450.1:p.Ala9Val
ENST00000690891.1:c.26C>T ENSP00000509744.1:p.Ala9Val
ENST00000691220.1:c.26C>T ENSP00000509580.1:p.Ala9Val
ENST00000691799.1:n.71-820C>T
ENST00000692260.1:n.41C>T
ENST00000273077.9:c.26C>T MANE Select ENSP00000273077.4:p.Ala9Val
ENST00000248451.7:c.26C>T ENSP00000248451.3:p.Ala9Val
ENST00000273077.8:c.26C>T ENSP00000273077.4:p.Ala9Val
ENST00000469689.1:n.42C>T
NM_001077399.2:c.26C>T NP_001070867.1:p.Ala9Val
NM_015488.4:c.26C>T NP_056303.3:p.Ala9Val
XM_017003771.1:c.26C>T XP_016859260.1:p.Ala9Val
NM_015488.5:c.26C>T MANE Select NP_056303.3:p.Ala9Val
NM_001077399.3:c.26C>T NP_001070867.1:p.Ala9Val
Search 100 bp 5'
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