Canonical Allele Identifier: CA874020027
Gene: PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1163078905
gnomAD v3: X-23082312-G-A
gnomAD v4: X-23082312-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23082312G>A , CM000685.2:g.23082312G>A GRCh38
NC_000023.10:g.23100429G>A , CM000685.1:g.23100429G>A GRCh37
NC_000023.9:g.23010350G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_073010.1:n.260-18191C>T
NR_073010.2:n.260-18191C>T