Canonical Allele Identifier: CA1328680916

Gene: PNKD

Linked Data

• dbSNP Id: rs1574614696

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270506A>C , CM000664.2:g.218270506A>C	GRCh38
NC_000002.11:g.219135229A>C , CM000664.1:g.219135229A>C	GRCh37
NC_000002.10:g.218843473A>C	NCBI36
NG_017060.1:g.5115A>C
NG_033036.1:g.4665T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691799.1:n.70+786A>C
ENST00000248451.7:c.-30A>C	ENSP00000248451.3:n.-30A>C
ENST00000273077.8:c.-30A>C	ENSP00000273077.4:n.-30A>C
NM_001077399.2:c.-30A>C	NP_001070867.1:n.-30A>C
NM_015488.4:c.-30A>C	NP_056303.3:n.-30A>C
XM_017003771.1:c.-30A>C	XP_016859260.1:n.-30A>C