Canonical Allele Identifier: CA354470920

Gene: RHO

Linked Data

• gnomAD v4: 3-129532743-C-A
• MyVariant Identifiers: chr3:g.129251586C>A (hg19) ; chr3:g.129532743C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532743C>A , CM000665.2:g.129532743C>A	GRCh38
NC_000003.11:g.129251586C>A , CM000665.1:g.129251586C>A	GRCh37
NC_000003.10:g.130734276C>A	NCBI36
NG_009115.1:g.9105C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.907C>A MANE Select	ENSP00000296271.3:p.Pro303Thr
ENST00000296271.3:c.907C>A	ENSP00000296271.3:p.Pro303Thr
NM_000539.3:c.907C>A MANE Select	NP_000530.1:p.Pro303Thr