Canonical Allele Identifier: CA354495380

Gene: RHO

Linked Data

• ClinVar Variation Id: 984772
• ClinVar RCV Id: RCV001265170 ; RCV001305331
• dbSNP Id: rs104893769
• MyVariant Identifiers: chr3:g.129247626C>A (hg19) ; chr3:g.129528783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528783C>A , CM000665.2:g.129528783C>A	GRCh38
NC_000003.11:g.129247626C>A , CM000665.1:g.129247626C>A	GRCh37
NC_000003.10:g.130730316C>A	NCBI36
NG_009115.1:g.5145C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.50C>A MANE Select	ENSP00000296271.3:p.Thr17Lys
ENST00000296271.3:c.50C>A	ENSP00000296271.3:p.Thr17Lys
NM_000539.3:c.50C>A MANE Select	NP_000530.1:p.Thr17Lys