Canonical Allele Identifier: CA354498726
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 866418
ClinVar RCV Id: RCV001074404 RCV001090663 RCV001265188 RCV001724238
dbSNP Id: rs2084776162
MyVariant Identifiers: chr3:g.129249869C>A (hg19) chr3:g.129531026C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531026C>A , CM000665.2:g.129531026C>A GRCh38
NC_000003.11:g.129249869C>A , CM000665.1:g.129249869C>A GRCh37
NC_000003.10:g.130732559C>A NCBI36
NG_009115.1:g.7388C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.512C>A MANE Select ENSP00000296271.3:p.Pro171Gln
ENST00000296271.3:c.512C>A ENSP00000296271.3:p.Pro171Gln
NM_000539.3:c.512C>A MANE Select NP_000530.1:p.Pro171Gln
Search 100 bp 5'
Search 100 bp 3'