Canonical Allele Identifier: CA354498726

Gene: RHO

Linked Data

• ClinVar Variation Id: 866418
• ClinVar RCV Id: RCV001074404 ; RCV001090663 ; RCV001265188 ; RCV001724238
• dbSNP Id: rs2084776162
• MyVariant Identifiers: chr3:g.129249869C>A (hg19) ; chr3:g.129531026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531026C>A , CM000665.2:g.129531026C>A	GRCh38
NC_000003.11:g.129249869C>A , CM000665.1:g.129249869C>A	GRCh37
NC_000003.10:g.130732559C>A	NCBI36
NG_009115.1:g.7388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.512C>A MANE Select	ENSP00000296271.3:p.Pro171Gln
ENST00000296271.3:c.512C>A	ENSP00000296271.3:p.Pro171Gln
NM_000539.3:c.512C>A MANE Select	NP_000530.1:p.Pro171Gln