Canonical Allele Identifier: CA10617362
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 343305
ClinVar RCV Id: RCV000311775 RCV000357280
dbSNP Id: rs886057976
gnomAD v4: 3-129534688-C-T
MyVariant Identifiers: chr3:g.129253531C>T (hg19) chr3:g.129534688C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129534688C>T , CM000665.2:g.129534688C>T GRCh38
NC_000003.11:g.129253531C>T , CM000665.1:g.129253531C>T GRCh37
NC_000003.10:g.130736221C>T NCBI36
NG_009115.1:g.11050C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.*970C>T MANE Select ENSP00000296271.3:n.*970C>T
ENST00000296271.3:c.*970C>T ENSP00000296271.3:n.*970C>T
NM_000539.3:c.*970C>T MANE Select NP_000530.1:n.*970C>T
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