Canonical Allele Identifier: CA327608131

Gene: PTCHD1-AS

Linked Data

• dbSNP Id: rs966623358
• gnomAD v3: X-23082248-C-T
• gnomAD v4: X-23082248-C-T
• MyVariant Identifiers: chrX:g.23100365C>T (hg19) ; chrX:g.23082248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23082248C>T , CM000685.2:g.23082248C>T	GRCh38
NC_000023.10:g.23100365C>T , CM000685.1:g.23100365C>T	GRCh37
NC_000023.9:g.23010286C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_073010.1:n.260-18127G>A
NR_073010.2:n.260-18127G>A