Canonical Allele Identifier: CA354497998

Gene: RHO

Linked Data

• ClinVar Variation Id: 493373
• ClinVar RCV Id: RCV001265185 ; RCV000585361
• dbSNP Id: rs1553781140
• MyVariant Identifiers: chr3:g.129249749T>C (hg19) ; chr3:g.129530906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530906T>C , CM000665.2:g.129530906T>C	GRCh38
NC_000003.11:g.129249749T>C , CM000665.1:g.129249749T>C	GRCh37
NC_000003.10:g.130732439T>C	NCBI36
NG_009115.1:g.7268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.392T>C MANE Select	ENSP00000296271.3:p.Leu131Pro
ENST00000296271.3:c.392T>C	ENSP00000296271.3:p.Leu131Pro
NM_000539.3:c.392T>C MANE Select	NP_000530.1:p.Leu131Pro