Canonical Allele Identifier: CA256683

Gene: RHO

Linked Data

• ClinVar Variation Id: 13038
• ClinVar RCV Id: RCV000787679 ; RCV001074389 ; RCV001207877 ; RCV000013913
• dbSNP Id: rs104893773
• ExAC: 3:129247892 G / A
• gnomAD v2: 3-129247892-G-A
• gnomAD v4: 3-129529049-G-A
• MyVariant Identifiers: chr3:g.129247892G>A (hg19) ; chr3:g.129529049G>A (hg38)
• PubMed: PMID:1580841 ; PMID:8328469

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529049G>A , CM000665.2:g.129529049G>A	GRCh38
NC_000003.11:g.129247892G>A , CM000665.1:g.129247892G>A	GRCh37
NC_000003.10:g.130730582G>A	NCBI36
NG_009115.1:g.5411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.316G>A MANE Select	ENSP00000296271.3:p.Gly106Arg
ENST00000296271.3:c.316G>A	ENSP00000296271.3:p.Gly106Arg
NM_000539.3:c.316G>A MANE Select	NP_000530.1:p.Gly106Arg