Canonical Allele Identifier: CA358695
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 29875
ClinVar RCV Id: RCV000022756 RCV001381858
dbSNP Id: rs869320618
gnomAD v2: 3-129249839-G-A
gnomAD v4: 3-129530996-G-A
MyVariant Identifiers: chr3:g.129249839G>A (hg19) chr3:g.129530996G>A (hg38)
PubMed: PMID:21174529
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530996G>A , CM000665.2:g.129530996G>A GRCh38
NC_000003.11:g.129249839G>A , CM000665.1:g.129249839G>A GRCh37
NC_000003.10:g.130732529G>A NCBI36
NG_009115.1:g.7358G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.482G>A MANE Select ENSP00000296271.3:p.Trp161Ter
ENST00000296271.3:c.482G>A ENSP00000296271.3:p.Trp161Ter
NM_000539.3:c.482G>A MANE Select NP_000530.1:p.Trp161Ter
Search 100 bp 5'
Search 100 bp 3'