Canonical Allele Identifier: CA256665

Gene: RHO

Linked Data

• ClinVar Variation Id: 13018
• ClinVar RCV Id: RCV000013892 ; RCV000787682 ; RCV001002098 ; RCV001090660 ; RCV001075619
• dbSNP Id: rs104893769
• gnomAD v2: 3-129247626-C-T
• gnomAD v3: 3-129528783-C-T
• gnomAD v4: 3-129528783-C-T
• COSMIC: COSM1038104
• MyVariant Identifiers: chr3:g.129247626C>T (hg19) ; chr3:g.129528783C>T (hg38)
• PubMed: PMID:1862076 ; PMID:1882937

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.50C>T MANE Select	ENSP00000296271.3:p.Thr17Met
ENST00000296271.3:c.50C>T	ENSP00000296271.3:p.Thr17Met
NM_000539.3:c.50C>T MANE Select	NP_000530.1:p.Thr17Met