Canonical Allele Identifier: CA1131620220

Gene: PTCHD1-AS

Linked Data

• dbSNP Id: rs1922425946
• gnomAD v3: X-23082254-A-G
• gnomAD v4: X-23082254-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23082254A>G , CM000685.2:g.23082254A>G	GRCh38
NC_000023.10:g.23100371A>G , CM000685.1:g.23100371A>G	GRCh37
NC_000023.9:g.23010292A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_073010.1:n.260-18133T>C
NR_073010.2:n.260-18133T>C