Canonical Allele Identifier: CA2607044

Gene: RHO

Linked Data

• ClinVar Variation Id: 343273
• ClinVar RCV Id: RCV000323919 ; RCV000371594 ; RCV003765982
• dbSNP Id: rs766112074
• ExAC: 3:129247624 G / A
• gnomAD v2: 3-129247624-G-A
• gnomAD v3: 3-129528781-G-A
• gnomAD v4: 3-129528781-G-A
• MyVariant Identifiers: chr3:g.129247624G>A (hg19) ; chr3:g.129528781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528781G>A , CM000665.2:g.129528781G>A	GRCh38
NC_000003.11:g.129247624G>A , CM000665.1:g.129247624G>A	GRCh37
NC_000003.10:g.130730314G>A	NCBI36
NG_009115.1:g.5143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.48G>A MANE Select	ENSP00000296271.3:p.Ala16=
ENST00000296271.3:c.48G>A	ENSP00000296271.3:p.Ala16=
NM_000539.3:c.48G>A MANE Select	NP_000530.1:p.Ala16=