Canonical Allele Identifier: CA1042435699

Gene: PNKD

Linked Data

• dbSNP Id: rs1690786309
• gnomAD v3: 2-218270530-C-G
• gnomAD v4: 2-218270530-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270530C>G , CM000664.2:g.218270530C>G	GRCh38
NC_000002.11:g.219135253C>G , CM000664.1:g.219135253C>G	GRCh37
NC_000002.10:g.218843497C>G	NCBI36
NG_017060.1:g.5139C>G
NG_033036.1:g.4641G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.-6C>G	ENSP00000414400.3:n.-6C>G
ENST00000472650.2:n.20C>G
ENST00000684905.1:n.6C>G
ENST00000685415.1:c.-6C>G	ENSP00000510415.1:n.-6C>G
ENST00000688179.1:c.-6C>G	ENSP00000508635.1:n.-6C>G
ENST00000689816.1:c.-6C>G	ENSP00000508450.1:n.-6C>G
ENST00000691799.1:n.70+810C>G
ENST00000692260.1:n.10C>G
ENST00000273077.9:c.-6C>G MANE Select	ENSP00000273077.4:n.-6C>G
ENST00000248451.7:c.-6C>G	ENSP00000248451.3:n.-6C>G
ENST00000273077.8:c.-6C>G	ENSP00000273077.4:n.-6C>G
ENST00000469689.1:n.11C>G
NM_001077399.2:c.-6C>G	NP_001070867.1:n.-6C>G
NM_015488.4:c.-6C>G	NP_056303.3:n.-6C>G
XM_017003771.1:c.-6C>G	XP_016859260.1:n.-6C>G
NM_015488.5:c.-6C>G MANE Select	NP_056303.3:n.-6C>G
NM_001077399.3:c.-6C>G	NP_001070867.1:n.-6C>G