Canonical Allele Identifier: CA435643988

Gene: RHO

Linked Data

• dbSNP Id: rs1302502291
• gnomAD v2: 3-129249816-C-G
• gnomAD v4: 3-129530973-C-G
• MyVariant Identifiers: chr3:g.129249816C>G (hg19) ; chr3:g.129530973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530973C>G , CM000665.2:g.129530973C>G	GRCh38
NC_000003.11:g.129249816C>G , CM000665.1:g.129249816C>G	GRCh37
NC_000003.10:g.130732506C>G	NCBI36
NG_009115.1:g.7335C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.459C>G MANE Select	ENSP00000296271.3:p.Ala153=
ENST00000296271.3:c.459C>G	ENSP00000296271.3:p.Ala153=
NM_000539.3:c.459C>G MANE Select	NP_000530.1:p.Ala153=