Canonical Allele Identifier: CA354470820

Gene: RHO

Linked Data

• ClinVar Variation Id: 523376
• ClinVar RCV Id: RCV000626703 ; RCV001270159 ; RCV002529794
• dbSNP Id: rs142285818
• MyVariant Identifiers: chr3:g.129251570C>G (hg19) ; chr3:g.129532727C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532727C>G , CM000665.2:g.129532727C>G	GRCh38
NC_000003.11:g.129251570C>G , CM000665.1:g.129251570C>G	GRCh37
NC_000003.10:g.130734260C>G	NCBI36
NG_009115.1:g.9089C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.891C>G MANE Select	ENSP00000296271.3:p.Ser297Arg
ENST00000296271.3:c.891C>G	ENSP00000296271.3:p.Ser297Arg
NM_000539.3:c.891C>G MANE Select	NP_000530.1:p.Ser297Arg