Canonical Allele Identifier: CA2663093525

Gene: PNKD

Linked Data

• gnomAD v4: 2-218270512-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270512G>A , CM000664.2:g.218270512G>A	GRCh38
NC_000002.11:g.219135235G>A , CM000664.1:g.219135235G>A	GRCh37
NC_000002.10:g.218843479G>A	NCBI36
NG_017060.1:g.5121G>A
NG_033036.1:g.4659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472650.2:n.2G>A
ENST00000691799.1:n.70+792G>A
ENST00000248451.7:c.-24G>A	ENSP00000248451.3:n.-24G>A
ENST00000273077.8:c.-24G>A	ENSP00000273077.4:n.-24G>A
NM_001077399.2:c.-24G>A	NP_001070867.1:n.-24G>A
NM_015488.4:c.-24G>A	NP_056303.3:n.-24G>A
XM_017003771.1:c.-24G>A	XP_016859260.1:n.-24G>A