Canonical Allele Identifier: CA354498751
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1355107
ClinVar RCV Id: RCV001887967
dbSNP Id: rs139731264
MyVariant Identifiers: chr3:g.129249874G>C (hg19) chr3:g.129531031G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531031G>C , CM000665.2:g.129531031G>C GRCh38
NC_000003.11:g.129249874G>C , CM000665.1:g.129249874G>C GRCh37
NC_000003.10:g.130732564G>C NCBI36
NG_009115.1:g.7393G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.517G>C MANE Select ENSP00000296271.3:p.Ala173Pro
ENST00000296271.3:c.517G>C ENSP00000296271.3:p.Ala173Pro
NM_000539.3:c.517G>C MANE Select NP_000530.1:p.Ala173Pro
Search 100 bp 5'
Search 100 bp 3'