Canonical Allele Identifier: CA2607355
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2613338
ClinVar RCV Id: RCV003360344
dbSNP Id: rs200095648
ExAC: 3:129252505 G / C
gnomAD v2: 3-129252505-G-C
gnomAD v3: 3-129533662-G-C
gnomAD v4: 3-129533662-G-C
MyVariant Identifiers: chr3:g.129252505G>C (hg19) chr3:g.129533662G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533662G>C , CM000665.2:g.129533662G>C GRCh38
NC_000003.11:g.129252505G>C , CM000665.1:g.129252505G>C GRCh37
NC_000003.10:g.130735195G>C NCBI36
NG_009115.1:g.10024G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.991G>C MANE Select ENSP00000296271.3:p.Asp331His
ENST00000296271.3:c.991G>C ENSP00000296271.3:p.Asp331His
NM_000539.3:c.991G>C MANE Select NP_000530.1:p.Asp331His
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Search 100 bp 3'