Canonical Allele Identifier: CA354498362

Gene: RHO

Linked Data

• ClinVar Variation Id: 1007101
• ClinVar RCV Id: RCV001304240
• dbSNP Id: rs1418964117
• MyVariant Identifiers: chr3:g.129249815C>A (hg19) ; chr3:g.129530972C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530972C>A , CM000665.2:g.129530972C>A	GRCh38
NC_000003.11:g.129249815C>A , CM000665.1:g.129249815C>A	GRCh37
NC_000003.10:g.130732505C>A	NCBI36
NG_009115.1:g.7334C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.458C>A MANE Select	ENSP00000296271.3:p.Ala153Asp
ENST00000296271.3:c.458C>A	ENSP00000296271.3:p.Ala153Asp
NM_000539.3:c.458C>A MANE Select	NP_000530.1:p.Ala153Asp