Canonical Allele Identifier: CA435644647
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2825828
ClinVar RCV Id: RCV003691424
dbSNP Id: rs2084785600
gnomAD v4: 3-129532266-C-T
COSMIC: COSM4934736
MyVariant Identifiers: chr3:g.129251109C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532266C>T , CM000665.2:g.129532266C>T GRCh38
NC_000003.11:g.129251109C>T , CM000665.1:g.129251109C>T GRCh37
NC_000003.10:g.130733799C>T NCBI36
NG_009115.1:g.8628C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.546C>T MANE Select ENSP00000296271.3:p.Gly182=
ENST00000296271.3:c.546C>T ENSP00000296271.3:p.Gly182=
NM_000539.3:c.546C>T MANE Select NP_000530.1:p.Gly182=
Search 100 bp 5'
Search 100 bp 3'