Canonical Allele Identifier: CA354498363

Gene: RHO

Linked Data

• ClinVar Variation Id: 1509710
• ClinVar RCV Id: RCV002018102
• dbSNP Id: rs1418964117
• gnomAD v3: 3-129530972-C-T
• gnomAD v4: 3-129530972-C-T
• MyVariant Identifiers: chr3:g.129249815C>T (hg19) ; chr3:g.129530972C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.458C>T MANE Select	ENSP00000296271.3:p.Ala153Val
ENST00000296271.3:c.458C>T	ENSP00000296271.3:p.Ala153Val
NM_000539.3:c.458C>T MANE Select	NP_000530.1:p.Ala153Val