Canonical Allele Identifier: CA256690

Gene: RHO

Linked Data

• ClinVar Variation Id: 13050
• ClinVar RCV Id: RCV001075386 ; RCV001381861 ; RCV001003169 ; RCV000013925
• dbSNP Id: rs104893794
• gnomAD v2: 3-129249868-C-T
• gnomAD v4: 3-129531025-C-T
• MyVariant Identifiers: chr3:g.129249868C>T (hg19) ; chr3:g.129531025C>T (hg38)
• PubMed: PMID:8088850

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531025C>T , CM000665.2:g.129531025C>T	GRCh38
NC_000003.11:g.129249868C>T , CM000665.1:g.129249868C>T	GRCh37
NC_000003.10:g.130732558C>T	NCBI36
NG_009115.1:g.7387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.511C>T MANE Select	ENSP00000296271.3:p.Pro171Ser
ENST00000296271.3:c.511C>T	ENSP00000296271.3:p.Pro171Ser
NM_000539.3:c.511C>T MANE Select	NP_000530.1:p.Pro171Ser