Canonical Allele Identifier: CA354470350

Gene: RHO

Linked Data

• ClinVar Variation Id: 1516053
• ClinVar RCV Id: RCV002023662
• dbSNP Id: rs2108750476
• MyVariant Identifiers: chr3:g.129251460T>C (hg19) ; chr3:g.129532617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532617T>C , CM000665.2:g.129532617T>C	GRCh38
NC_000003.11:g.129251460T>C , CM000665.1:g.129251460T>C	GRCh37
NC_000003.10:g.130734150T>C	NCBI36
NG_009115.1:g.8979T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.781T>C MANE Select	ENSP00000296271.3:p.Phe261Leu
ENST00000296271.3:c.781T>C	ENSP00000296271.3:p.Phe261Leu
NM_000539.3:c.781T>C MANE Select	NP_000530.1:p.Phe261Leu