Canonical Allele Identifier: CA10617363
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 343306
ClinVar RCV Id: RCV000262363 RCV000317491
dbSNP Id: rs3733148
gnomAD v2: 3-129253660-G-A
gnomAD v3: 3-129534817-G-A
gnomAD v4: 3-129534817-G-A
MyVariant Identifiers: chr3:g.129253660G>A (hg19) chr3:g.129534817G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129534817G>A , CM000665.2:g.129534817G>A GRCh38
NC_000003.11:g.129253660G>A , CM000665.1:g.129253660G>A GRCh37
NC_000003.10:g.130736350G>A NCBI36
NG_009115.1:g.11179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.*1099G>A MANE Select ENSP00000296271.3:n.*1099G>A
ENST00000296271.3:c.*1099G>A ENSP00000296271.3:n.*1099G>A
NM_000539.3:c.*1099G>A MANE Select NP_000530.1:n.*1099G>A
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