Canonical Allele Identifier: CA59574576
Gene: PTCHD3P2 HGNC NCBI
KLHL23 HGNC NCBI

Linked Data

dbSNP Id: rs1012875561

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169767629C>A , CM000664.2:g.169767629C>A GRCh38
NC_000002.11:g.170624139C>A , CM000664.1:g.170624139C>A GRCh37
NC_000002.10:g.170332385C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424937.1:n.1087+84G>T (PTCHD3P2)
ENST00000437875.1:c.830-5691C>A (KLHL23) ENSP00000394732.1:n.830-5691C>A
ENST00000448589.1:c.46-8812C>A (KLHL23)