Canonical Allele Identifier: CA65747106
Gene: PNKD HGNC NCBI

Linked Data

dbSNP Id: rs1048371804
gnomAD v4: 2-218270445-C-A
MyVariant Identifiers: chr2:g.219135168C>A (hg19) chr2:g.218270445C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218270445C>A , CM000664.2:g.218270445C>A GRCh38
NC_000002.11:g.219135168C>A , CM000664.1:g.219135168C>A GRCh37
NC_000002.10:g.218843412C>A NCBI36
NG_017060.1:g.5054C>A
NG_033036.1:g.4726G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691799.1:n.70+725C>A
ENST00000248451.7:c.-91C>A ENSP00000248451.3:n.-91C>A
NM_001077399.2:c.-91C>A NP_001070867.1:n.-91C>A
NM_015488.4:c.-91C>A NP_056303.3:n.-91C>A
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