Canonical Allele Identifier: CA256684

Gene: RHO

Linked Data

• ClinVar Variation Id: 13040
• ClinVar RCV Id: RCV000013915 ; RCV000504953 ; RCV001386997
• dbSNP Id: rs104893779
• gnomAD v4: 3-129532288-G-T
• MyVariant Identifiers: chr3:g.129251131G>T (hg19) ; chr3:g.129532288G>T (hg38)
• PubMed: PMID:1580841 ; PMID:8401533 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532288G>T , CM000665.2:g.129532288G>T	GRCh38
NC_000003.11:g.129251131G>T , CM000665.1:g.129251131G>T	GRCh37
NC_000003.10:g.130733821G>T	NCBI36
NG_009115.1:g.8650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.568G>T MANE Select	ENSP00000296271.3:p.Asp190Tyr
ENST00000296271.3:c.568G>T	ENSP00000296271.3:p.Asp190Tyr
NM_000539.3:c.568G>T MANE Select	NP_000530.1:p.Asp190Tyr