Canonical Allele Identifier: CA1042435612
Gene: PNKD HGNC NCBI

Linked Data

dbSNP Id: rs1690781197

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218270449A>C , CM000664.2:g.218270449A>C GRCh38
NC_000002.11:g.219135172A>C , CM000664.1:g.219135172A>C GRCh37
NC_000002.10:g.218843416A>C NCBI36
NG_017060.1:g.5058A>C
NG_033036.1:g.4722T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691799.1:n.70+729A>C
ENST00000248451.7:c.-87A>C ENSP00000248451.3:n.-87A>C
NM_001077399.2:c.-87A>C NP_001070867.1:n.-87A>C
NM_015488.4:c.-87A>C NP_056303.3:n.-87A>C