Canonical Allele Identifier: CA270021

Gene: RHO

Linked Data

• ClinVar Variation Id: 143079
• ClinVar RCV Id: RCV000132596 ; RCV001007975 ; RCV001265175
• dbSNP Id: rs527236101
• MyVariant Identifiers: chr3:g.129247756C>A (hg19) ; chr3:g.129528913C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528913C>A , CM000665.2:g.129528913C>A	GRCh38
NC_000003.11:g.129247756C>A , CM000665.1:g.129247756C>A	GRCh37
NC_000003.10:g.130730446C>A	NCBI36
NG_009115.1:g.5275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.180C>A MANE Select	ENSP00000296271.3:p.Tyr60Ter
ENST00000296271.3:c.180C>A	ENSP00000296271.3:p.Tyr60Ter
NM_000539.3:c.180C>A MANE Select	NP_000530.1:p.Tyr60Ter