Canonical Allele Identifier: CA315390469

Gene: R3HDML-AS1

Linked Data

• ClinVar Variation Id: 435432
• ClinVar RCV Id: RCV000502426 ; RCV001591140 ; RCV003148758
• dbSNP Id: rs112444447
• gnomAD v2: 20-42984167-G-A
• gnomAD v3: 20-44355527-G-A
• gnomAD v4: 20-44355527-G-A
• MyVariant Identifiers: chr20:g.42984167G>A (hg19) ; chr20:g.44355527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44355527G>A , CM000682.2:g.44355527G>A	GRCh38
NC_000020.10:g.42984167G>A , CM000682.1:g.42984167G>A	GRCh37
NC_000020.9:g.42417581G>A	NCBI36
NG_009818.1:g.4727G>A , LRG_483:g.4727G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_936747.1:n.113C>T
XR_936748.1:n.74+180C>T
XR_936750.1:n.114C>T
XR_936747.3:n.174C>T
XR_936748.3:n.73+180C>T
XR_936750.3:n.174C>T