Canonical Allele Identifier: CA1131620228
Gene: PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1922427043
gnomAD v3: X-23082297-T-C
gnomAD v4: X-23082297-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23082297T>C , CM000685.2:g.23082297T>C GRCh38
NC_000023.10:g.23100414T>C , CM000685.1:g.23100414T>C GRCh37
NC_000023.9:g.23010335T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_073010.1:n.260-18176A>G
NR_073010.2:n.260-18176A>G