Canonical Allele Identifier: CA65747230

Gene: PNKD

Linked Data

• ClinVar Variation Id: 1584200
• ClinVar RCV Id: RCV002100311
• dbSNP Id: rs955860203
• gnomAD v2: 2-219135300-G-A
• gnomAD v4: 2-218270577-G-A
• MyVariant Identifiers: chr2:g.219135300G>A (hg19) ; chr2:g.218270577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270577G>A , CM000664.2:g.218270577G>A	GRCh38
NC_000002.11:g.219135300G>A , CM000664.1:g.219135300G>A	GRCh37
NC_000002.10:g.218843544G>A	NCBI36
NG_017060.1:g.5186G>A
NG_033036.1:g.4594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.42G>A	ENSP00000414400.3:p.Gly14=
ENST00000472650.2:n.67G>A
ENST00000684905.1:n.53G>A
ENST00000685415.1:c.42G>A	ENSP00000510415.1:p.Gly14=
ENST00000687736.1:c.42G>A	ENSP00000509627.1:p.Gly14=
ENST00000688179.1:c.42G>A	ENSP00000508635.1:p.Gly14=
ENST00000689816.1:c.42G>A	ENSP00000508450.1:p.Gly14=
ENST00000690891.1:c.42G>A	ENSP00000509744.1:p.Gly14=
ENST00000691220.1:c.42G>A	ENSP00000509580.1:p.Gly14=
ENST00000691799.1:n.71-804G>A
ENST00000692260.1:n.57G>A
ENST00000273077.9:c.42G>A MANE Select	ENSP00000273077.4:p.Gly14=
ENST00000248451.7:c.42G>A	ENSP00000248451.3:p.Gly14=
ENST00000273077.8:c.42G>A	ENSP00000273077.4:p.Gly14=
ENST00000469689.1:n.58G>A
NM_001077399.2:c.42G>A	NP_001070867.1:p.Gly14=
NM_015488.4:c.42G>A	NP_056303.3:p.Gly14=
XM_017003771.1:c.42G>A	XP_016859260.1:p.Gly14=
NM_015488.5:c.42G>A MANE Select	NP_056303.3:p.Gly14=
NM_001077399.3:c.42G>A	NP_001070867.1:p.Gly14=