Canonical Allele Identifier: CA354496164

Gene: RHO

Linked Data

• ClinVar Variation Id: 1383865
• ClinVar RCV Id: RCV001895561
• dbSNP Id: rs2084757607
• MyVariant Identifiers: chr3:g.129247770A>G (hg19) ; chr3:g.129528927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528927A>G , CM000665.2:g.129528927A>G	GRCh38
NC_000003.11:g.129247770A>G , CM000665.1:g.129247770A>G	GRCh37
NC_000003.10:g.130730460A>G	NCBI36
NG_009115.1:g.5289A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.194A>G MANE Select	ENSP00000296271.3:p.His65Arg
ENST00000296271.3:c.194A>G	ENSP00000296271.3:p.His65Arg
NM_000539.3:c.194A>G MANE Select	NP_000530.1:p.His65Arg