Canonical Allele Identifier: CA2607118

Gene: RHO

Linked Data

• ClinVar Variation Id: 1001178
• ClinVar RCV Id: RCV001297432
• dbSNP Id: rs79765751
• ExAC: 3:129247936 C / A
• gnomAD v2: 3-129247936-C-A
• gnomAD v3: 3-129529093-C-A
• gnomAD v4: 3-129529093-C-A
• MyVariant Identifiers: chr3:g.129247936C>A (hg19) ; chr3:g.129529093C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529093C>A , CM000665.2:g.129529093C>A	GRCh38
NC_000003.11:g.129247936C>A , CM000665.1:g.129247936C>A	GRCh37
NC_000003.10:g.130730626C>A	NCBI36
NG_009115.1:g.5455C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.360C>A MANE Select	ENSP00000296271.3:p.Gly120=
ENST00000296271.3:c.360C>A	ENSP00000296271.3:p.Gly120=
NM_000539.3:c.360C>A MANE Select	NP_000530.1:p.Gly120=