Canonical Allele Identifier: CA354470600
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 3027579
ClinVar RCV Id: RCV003890833
MyVariant Identifiers: chr3:g.129251535A>G (hg19) chr3:g.129532692A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532692A>G , CM000665.2:g.129532692A>G GRCh38
NC_000003.11:g.129251535A>G , CM000665.1:g.129251535A>G GRCh37
NC_000003.10:g.130734225A>G NCBI36
NG_009115.1:g.9054A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.856A>G MANE Select ENSP00000296271.3:p.Ile286Val
ENST00000296271.3:c.856A>G ENSP00000296271.3:p.Ile286Val
NM_000539.3:c.856A>G MANE Select NP_000530.1:p.Ile286Val
Search 100 bp 5'
Search 100 bp 3'