Canonical Allele Identifier: CA435769035
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1946046
ClinVar RCV Id: RCV002667523
dbSNP Id: rs1338813260
gnomAD v2: 3-129251378-C-G
gnomAD v4: 3-129532535-C-G
MyVariant Identifiers: chr3:g.129251378C>G (hg19) chr3:g.129532535C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532535C>G , CM000665.2:g.129532535C>G GRCh38
NC_000003.11:g.129251378C>G , CM000665.1:g.129251378C>G GRCh37
NC_000003.10:g.130734068C>G NCBI36
NG_009115.1:g.8897C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.699C>G MANE Select ENSP00000296271.3:p.Ala233=
ENST00000296271.3:c.699C>G ENSP00000296271.3:p.Ala233=
NM_000539.3:c.699C>G MANE Select NP_000530.1:p.Ala233=
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