Canonical Allele Identifier: CA256670
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13023
ClinVar RCV Id: RCV000013897 RCV001056948 RCV003887862
dbSNP Id: rs104893779
gnomAD v2: 3-129251131-G-A
gnomAD v4: 3-129532288-G-A
MyVariant Identifiers: chr3:g.129251131G>A (hg19) chr3:g.129532288G>A (hg38)
PubMed: PMID:1765377
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.568G>A MANE Select ENSP00000296271.3:p.Asp190Asn
ENST00000296271.3:c.568G>A ENSP00000296271.3:p.Asp190Asn
NM_000539.3:c.568G>A MANE Select NP_000530.1:p.Asp190Asn
Search 100 bp 5'
Search 100 bp 3'