Canonical Allele Identifier: CA546417817

Gene: RHO

Linked Data

• dbSNP Id: rs1316474875
• gnomAD v2: 3-129249909-G-A
• gnomAD v4: 3-129531066-G-A
• MyVariant Identifiers: chr3:g.129249909G>A (hg19) ; chr3:g.129531066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531066G>A , CM000665.2:g.129531066G>A	GRCh38
NC_000003.11:g.129249909G>A , CM000665.1:g.129249909G>A	GRCh37
NC_000003.10:g.130732599G>A	NCBI36
NG_009115.1:g.7428G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.530+22G>A MANE Select	ENSP00000296271.3:n.530+22G>A
ENST00000296271.3:c.530+22G>A	ENSP00000296271.3:n.530+22G>A
NM_000539.3:c.530+22G>A MANE Select	NP_000530.1:n.530+22G>A