Canonical Allele Identifier: CA354498662

Gene: RHO

Linked Data

• ClinVar Variation Id: 870953
• ClinVar RCV Id: RCV001090662
• dbSNP Id: rs751280060
• MyVariant Identifiers: chr3:g.129249858C>G (hg19) ; chr3:g.129531015C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531015C>G , CM000665.2:g.129531015C>G	GRCh38
NC_000003.11:g.129249858C>G , CM000665.1:g.129249858C>G	GRCh37
NC_000003.10:g.130732548C>G	NCBI36
NG_009115.1:g.7377C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.501C>G MANE Select	ENSP00000296271.3:p.Cys167Trp
ENST00000296271.3:c.501C>G	ENSP00000296271.3:p.Cys167Trp
NM_000539.3:c.501C>G MANE Select	NP_000530.1:p.Cys167Trp