Canonical Allele Identifier: CA546417819

Gene: RHO

Linked Data

• dbSNP Id: rs1463878766
• gnomAD v2: 3-129249927-C-G
• gnomAD v4: 3-129531084-C-G
• MyVariant Identifiers: chr3:g.129249927C>G (hg19) ; chr3:g.129531084C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531084C>G , CM000665.2:g.129531084C>G	GRCh38
NC_000003.11:g.129249927C>G , CM000665.1:g.129249927C>G	GRCh37
NC_000003.10:g.130732617C>G	NCBI36
NG_009115.1:g.7446C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.530+40C>G MANE Select	ENSP00000296271.3:n.530+40C>G
ENST00000296271.3:c.530+40C>G	ENSP00000296271.3:n.530+40C>G
NM_000539.3:c.530+40C>G MANE Select	NP_000530.1:n.530+40C>G