Canonical Allele Identifier: CA327608133

Gene: PTCHD1-AS

Linked Data

• dbSNP Id: rs113445182
• gnomAD v2: X-23100398-T-A
• gnomAD v3: X-23082281-T-A
• gnomAD v4: X-23082281-T-A
• MyVariant Identifiers: chrX:g.23100398T>A (hg19) ; chrX:g.23082281T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23082281T>A , CM000685.2:g.23082281T>A	GRCh38
NC_000023.10:g.23100398T>A , CM000685.1:g.23100398T>A	GRCh37
NC_000023.9:g.23010319T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_073010.1:n.260-18160A>T
NR_073010.2:n.260-18160A>T