Canonical Allele Identifier: CA354497833

Gene: RHO

Linked Data

• ClinVar Variation Id: 984781
• ClinVar RCV Id: RCV001265183 ; RCV001265184
• dbSNP Id: rs2084774644
• gnomAD v4: 3-129530876-G-T
• MyVariant Identifiers: chr3:g.129249719G>T (hg19) ; chr3:g.129530876G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530876G>T , CM000665.2:g.129530876G>T	GRCh38
NC_000003.11:g.129249719G>T , CM000665.1:g.129249719G>T	GRCh37
NC_000003.10:g.130732409G>T	NCBI36
NG_009115.1:g.7238G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.362G>T MANE Select	ENSP00000296271.3:p.Gly121Val
ENST00000296271.3:c.362G>T	ENSP00000296271.3:p.Gly121Val
NM_000539.3:c.362G>T MANE Select	NP_000530.1:p.Gly121Val