Canonical Allele Identifier: CA2661834643
Gene: PTCHD3P2 HGNC NCBI
KLHL23 HGNC NCBI

Linked Data

gnomAD v4: 2-169767618-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169767618G>A , CM000664.2:g.169767618G>A GRCh38
NC_000002.11:g.170624128G>A , CM000664.1:g.170624128G>A GRCh37
NC_000002.10:g.170332374G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424937.1:n.1087+95C>T (PTCHD3P2)
ENST00000437875.1:c.830-5702G>A (KLHL23) ENSP00000394732.1:n.830-5702G>A
ENST00000448589.1:c.46-8823G>A (KLHL23)
Search 100 bp 5'
Search 100 bp 3'