Canonical Allele Identifier: CA354498754
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1714820
ClinVar RCV Id: RCV002299176
dbSNP Id: rs1461270517
gnomAD v4: 3-129531032-C-T
MyVariant Identifiers: chr3:g.129249875C>T (hg19) chr3:g.129531032C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531032C>T , CM000665.2:g.129531032C>T GRCh38
NC_000003.11:g.129249875C>T , CM000665.1:g.129249875C>T GRCh37
NC_000003.10:g.130732565C>T NCBI36
NG_009115.1:g.7394C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.518C>T MANE Select ENSP00000296271.3:p.Ala173Val
ENST00000296271.3:c.518C>T ENSP00000296271.3:p.Ala173Val
NM_000539.3:c.518C>T MANE Select NP_000530.1:p.Ala173Val
Search 100 bp 5'
Search 100 bp 3'