Canonical Allele Identifier: CA354496688
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 866607
ClinVar RCV Id: RCV001074739
dbSNP Id: rs773808406
gnomAD v4: 3-129529012-C-G
MyVariant Identifiers: chr3:g.129247855C>G (hg19) chr3:g.129529012C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529012C>G , CM000665.2:g.129529012C>G GRCh38
NC_000003.11:g.129247855C>G , CM000665.1:g.129247855C>G GRCh37
NC_000003.10:g.130730545C>G NCBI36
NG_009115.1:g.5374C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.279C>G MANE Select ENSP00000296271.3:p.Ser93Arg
ENST00000296271.3:c.279C>G ENSP00000296271.3:p.Ser93Arg
NM_000539.3:c.279C>G MANE Select NP_000530.1:p.Ser93Arg
Search 100 bp 5'
Search 100 bp 3'