Canonical Allele Identifier: CA354495868

Gene: RHO

Linked Data

• dbSNP Id: rs1287941897
• gnomAD v3: 3-129528863-A-G
• gnomAD v4: 3-129528863-A-G
• MyVariant Identifiers: chr3:g.129247706A>G (hg19) ; chr3:g.129528863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528863A>G , CM000665.2:g.129528863A>G	GRCh38
NC_000003.11:g.129247706A>G , CM000665.1:g.129247706A>G	GRCh37
NC_000003.10:g.130730396A>G	NCBI36
NG_009115.1:g.5225A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.130A>G MANE Select	ENSP00000296271.3:p.Met44Val
ENST00000296271.3:c.130A>G	ENSP00000296271.3:p.Met44Val
NM_000539.3:c.130A>G MANE Select	NP_000530.1:p.Met44Val