Canonical Allele Identifier: CA435768688
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1131399
ClinVar RCV Id: RCV001465238
dbSNP Id: rs2084758349
gnomAD v3: 3-129528976-G-A
gnomAD v4: 3-129528976-G-A
MyVariant Identifiers: chr3:g.129247819G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528976G>A , CM000665.2:g.129528976G>A GRCh38
NC_000003.11:g.129247819G>A , CM000665.1:g.129247819G>A GRCh37
NC_000003.10:g.130730509G>A NCBI36
NG_009115.1:g.5338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.243G>A MANE Select ENSP00000296271.3:p.Val81=
ENST00000296271.3:c.243G>A ENSP00000296271.3:p.Val81=
NM_000539.3:c.243G>A MANE Select NP_000530.1:p.Val81=
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