Canonical Allele Identifier: CA354496677

Gene: RHO

Linked Data

• ClinVar Variation Id: 1935435
• ClinVar RCV Id: RCV002657777
• MyVariant Identifiers: chr3:g.129247853A>C (hg19) ; chr3:g.129529010A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529010A>C , CM000665.2:g.129529010A>C	GRCh38
NC_000003.11:g.129247853A>C , CM000665.1:g.129247853A>C	GRCh37
NC_000003.10:g.130730543A>C	NCBI36
NG_009115.1:g.5372A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.277A>C MANE Select	ENSP00000296271.3:p.Ser93Arg
ENST00000296271.3:c.277A>C	ENSP00000296271.3:p.Ser93Arg
NM_000539.3:c.277A>C MANE Select	NP_000530.1:p.Ser93Arg