Canonical Allele Identifier: CA354499200
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 984784
ClinVar RCV Id: RCV001265194 RCV001377164
dbSNP Id: rs1236550448
gnomAD v4: 3-129532273-T-C
MyVariant Identifiers: chr3:g.129251116T>C (hg19) chr3:g.129532273T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532273T>C , CM000665.2:g.129532273T>C GRCh38
NC_000003.11:g.129251116T>C , CM000665.1:g.129251116T>C GRCh37
NC_000003.10:g.130733806T>C NCBI36
NG_009115.1:g.8635T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.553T>C MANE Select ENSP00000296271.3:p.Cys185Arg
ENST00000296271.3:c.553T>C ENSP00000296271.3:p.Cys185Arg
NM_000539.3:c.553T>C MANE Select NP_000530.1:p.Cys185Arg
Search 100 bp 5'
Search 100 bp 3'