Canonical Allele Identifier: CA354498019

Gene: RHO

Linked Data

• gnomAD v4: 3-129530911-A-G
• MyVariant Identifiers: chr3:g.129249754A>G (hg19) ; chr3:g.129530911A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530911A>G , CM000665.2:g.129530911A>G	GRCh38
NC_000003.11:g.129249754A>G , CM000665.1:g.129249754A>G	GRCh37
NC_000003.10:g.130732444A>G	NCBI36
NG_009115.1:g.7273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.397A>G MANE Select	ENSP00000296271.3:p.Ile133Val
ENST00000296271.3:c.397A>G	ENSP00000296271.3:p.Ile133Val
NM_000539.3:c.397A>G MANE Select	NP_000530.1:p.Ile133Val