Canonical Allele Identifier: CA354471268

Gene: RHO

Linked Data

• ClinVar Variation Id: 636081
• ClinVar RCV Id: RCV000787676 ; RCV001042727
• dbSNP Id: rs104893795
• MyVariant Identifiers: chr3:g.129252547G>T (hg19) ; chr3:g.129533704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129533704G>T , CM000665.2:g.129533704G>T	GRCh38
NC_000003.11:g.129252547G>T , CM000665.1:g.129252547G>T	GRCh37
NC_000003.10:g.130735237G>T	NCBI36
NG_009115.1:g.10066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.1033G>T MANE Select	ENSP00000296271.3:p.Val345Leu
ENST00000296271.3:c.1033G>T	ENSP00000296271.3:p.Val345Leu
NM_000539.3:c.1033G>T MANE Select	NP_000530.1:p.Val345Leu