Canonical Allele Identifier: CA354499186
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 867026
ClinVar RCV Id: RCV001075493 RCV001337215 RCV001535689 RCV002249673 RCV003447316
dbSNP Id: rs1402468701
gnomAD v2: 3-129251114-A-G
gnomAD v3: 3-129532271-A-G
gnomAD v4: 3-129532271-A-G
MyVariant Identifiers: chr3:g.129251114A>G (hg19) chr3:g.129532271A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532271A>G , CM000665.2:g.129532271A>G GRCh38
NC_000003.11:g.129251114A>G , CM000665.1:g.129251114A>G GRCh37
NC_000003.10:g.130733804A>G NCBI36
NG_009115.1:g.8633A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.551A>G MANE Select ENSP00000296271.3:p.Gln184Arg
ENST00000296271.3:c.551A>G ENSP00000296271.3:p.Gln184Arg
NM_000539.3:c.551A>G MANE Select NP_000530.1:p.Gln184Arg
Search 100 bp 5'
Search 100 bp 3'