Canonical Allele Identifier: CA354470362

Gene: RHO

Linked Data

• gnomAD v4: 3-129532623-A-G
• MyVariant Identifiers: chr3:g.129251466A>G (hg19) ; chr3:g.129532623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532623A>G , CM000665.2:g.129532623A>G	GRCh38
NC_000003.11:g.129251466A>G , CM000665.1:g.129251466A>G	GRCh37
NC_000003.10:g.130734156A>G	NCBI36
NG_009115.1:g.8985A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.787A>G MANE Select	ENSP00000296271.3:p.Ile263Val
ENST00000296271.3:c.787A>G	ENSP00000296271.3:p.Ile263Val
NM_000539.3:c.787A>G MANE Select	NP_000530.1:p.Ile263Val