Canonical Allele Identifier: CA251964
Gene: PNKD HGNC NCBI

Linked Data

ClinVar Variation Id: 1894
dbSNP Id: rs121434513

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218271410G>C , CM000664.2:g.218271410G>C GRCh38
NC_000002.11:g.219136133G>C , CM000664.1:g.219136133G>C GRCh37
NC_000002.10:g.218844377G>C NCBI36
NG_017060.1:g.6019G>C
NG_033036.1:g.3761C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000436005.3:c.97G>C ENSP00000414400.3:p.Ala33Pro
ENST00000472650.2:n.122G>C
ENST00000684905.1:n.108G>C
ENST00000685415.1:c.97G>C ENSP00000510415.1:p.Ala33Pro
ENST00000687736.1:c.97G>C ENSP00000509627.1:p.Ala33Pro
ENST00000688179.1:c.97G>C ENSP00000508635.1:p.Ala33Pro
ENST00000689816.1:c.97G>C ENSP00000508450.1:p.Ala33Pro
ENST00000690891.1:c.97G>C ENSP00000509744.1:p.Ala33Pro
ENST00000691220.1:c.97G>C ENSP00000509580.1:p.Ala33Pro
ENST00000691799.1:n.100G>C
ENST00000692260.1:n.112G>C
ENST00000273077.9:c.97G>C MANE Select ENSP00000273077.4:p.Ala33Pro
ENST00000248451.7:c.97G>C ENSP00000248451.3:p.Ala33Pro
ENST00000273077.8:c.97G>C ENSP00000273077.4:p.Ala33Pro
ENST00000469689.1:n.891G>C
ENST00000472650.1:n.31G>C
NM_001077399.2:c.97G>C NP_001070867.1:p.Ala33Pro
NM_015488.4:c.97G>C NP_056303.3:p.Ala33Pro
XM_017003771.1:c.97G>C XP_016859260.1:p.Ala33Pro
NM_015488.5:c.97G>C MANE Select NP_056303.3:p.Ala33Pro
NM_001077399.3:c.97G>C NP_001070867.1:p.Ala33Pro