Canonical Allele Identifier: CA354496896
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 866181
ClinVar RCV Id: RCV001073984 RCV001265179 RCV001862531
dbSNP Id: rs1415160298
gnomAD v3: 3-129529058-G-A
gnomAD v4: 3-129529058-G-A
MyVariant Identifiers: chr3:g.129247901G>A (hg19) chr3:g.129529058G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529058G>A , CM000665.2:g.129529058G>A GRCh38
NC_000003.11:g.129247901G>A , CM000665.1:g.129247901G>A GRCh37
NC_000003.10:g.130730591G>A NCBI36
NG_009115.1:g.5420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.325G>A MANE Select ENSP00000296271.3:p.Gly109Arg
ENST00000296271.3:c.325G>A ENSP00000296271.3:p.Gly109Arg
NM_000539.3:c.325G>A MANE Select NP_000530.1:p.Gly109Arg
Search 100 bp 5'
Search 100 bp 3'