Canonical Allele Identifier: CA354470648

Gene: RHO

Linked Data

• gnomAD v4: 3-129532699-T-G
• MyVariant Identifiers: chr3:g.129251542T>G (hg19) ; chr3:g.129532699T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532699T>G , CM000665.2:g.129532699T>G	GRCh38
NC_000003.11:g.129251542T>G , CM000665.1:g.129251542T>G	GRCh37
NC_000003.10:g.130734232T>G	NCBI36
NG_009115.1:g.9061T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.863T>G MANE Select	ENSP00000296271.3:p.Met288Arg
ENST00000296271.3:c.863T>G	ENSP00000296271.3:p.Met288Arg
NM_000539.3:c.863T>G MANE Select	NP_000530.1:p.Met288Arg