Canonical Allele Identifier: CA2663093390
Gene: PNKD HGNC NCBI

Linked Data

gnomAD v4: 2-218270433-G-T
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000691799.1:n.70+713G>T
ENST00000248451.7:c.-103G>T ENSP00000248451.3:n.-103G>T
NM_001077399.2:c.-103G>T NP_001070867.1:n.-103G>T
NM_015488.4:c.-103G>T NP_056303.3:n.-103G>T
Search 100 bp 5'
Search 100 bp 3'