Canonical Allele Identifier: CA16616904
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 417867
ClinVar RCV Id: RCV000477900 RCV000787680 RCV000787681 RCV001229601 RCV003889904 RCV001265187
dbSNP Id: rs104893793
gnomAD v2: 3-129249848-C-T
gnomAD v3: 3-129531005-C-T
gnomAD v4: 3-129531005-C-T
MyVariant Identifiers: chr3:g.129249848C>T (hg19) chr3:g.129531005C>T (hg38)
PubMed: PMID:7981701 PMID:8088850 PMID:9380676 PMID:12871954 PMID:17488458 PMID:21094163 PMID:21219898
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531005C>T , CM000665.2:g.129531005C>T GRCh38
NC_000003.11:g.129249848C>T , CM000665.1:g.129249848C>T GRCh37
NC_000003.10:g.130732538C>T NCBI36
NG_009115.1:g.7367C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.491C>T MANE Select ENSP00000296271.3:p.Ala164Val
ENST00000296271.3:c.491C>T ENSP00000296271.3:p.Ala164Val
NM_000539.3:c.491C>T MANE Select NP_000530.1:p.Ala164Val
Search 100 bp 5'
Search 100 bp 3'