Canonical Allele Identifier: CA1328680867

Gene: PNKD

Linked Data

• dbSNP Id: rs1690780525

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270430G>C , CM000664.2:g.218270430G>C	GRCh38
NC_000002.11:g.219135153G>C , CM000664.1:g.219135153G>C	GRCh37
NC_000002.10:g.218843397G>C	NCBI36
NG_017060.1:g.5039G>C
NG_033036.1:g.4741C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691799.1:n.70+710G>C
ENST00000248451.7:c.-106G>C	ENSP00000248451.3:n.-106G>C
NM_001077399.2:c.-106G>C	NP_001070867.1:n.-106G>C
NM_015488.4:c.-106G>C	NP_056303.3:n.-106G>C