Canonical Allele Identifier: CA354495999

Gene: RHO

Linked Data

• ClinVar Variation Id: 984775
• ClinVar RCV Id: RCV001265173 ; RCV001880087
• dbSNP Id: rs1312862210
• gnomAD v4: 3-129528898-C-A
• MyVariant Identifiers: chr3:g.129247741C>A (hg19) ; chr3:g.129528898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528898C>A , CM000665.2:g.129528898C>A	GRCh38
NC_000003.11:g.129247741C>A , CM000665.1:g.129247741C>A	GRCh37
NC_000003.10:g.130730431C>A	NCBI36
NG_009115.1:g.5260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.165C>A MANE Select	ENSP00000296271.3:p.Asn55Lys
ENST00000296271.3:c.165C>A	ENSP00000296271.3:p.Asn55Lys
NM_000539.3:c.165C>A MANE Select	NP_000530.1:p.Asn55Lys