Canonical Allele Identifier: CA2663093388

Gene: PNKD

Linked Data

• gnomAD v4: 2-218270433-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270433G>C , CM000664.2:g.218270433G>C	GRCh38
NC_000002.11:g.219135156G>C , CM000664.1:g.219135156G>C	GRCh37
NC_000002.10:g.218843400G>C	NCBI36
NG_017060.1:g.5042G>C
NG_033036.1:g.4738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691799.1:n.70+713G>C
ENST00000248451.7:c.-103G>C	ENSP00000248451.3:n.-103G>C
NM_001077399.2:c.-103G>C	NP_001070867.1:n.-103G>C
NM_015488.4:c.-103G>C	NP_056303.3:n.-103G>C