Canonical Allele Identifier: CA354496677
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1935435
ClinVar RCV Id: RCV002657777
MyVariant Identifiers: chr3:g.129247853A>C (hg19) chr3:g.129529010A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529010A>C , CM000665.2:g.129529010A>C GRCh38
NC_000003.11:g.129247853A>C , CM000665.1:g.129247853A>C GRCh37
NC_000003.10:g.130730543A>C NCBI36
NG_009115.1:g.5372A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.277A>C MANE Select ENSP00000296271.3:p.Ser93Arg
ENST00000296271.3:c.277A>C ENSP00000296271.3:p.Ser93Arg
NM_000539.3:c.277A>C MANE Select NP_000530.1:p.Ser93Arg
Search 100 bp 5'
Search 100 bp 3'