Canonical Allele Identifier: CA354470179
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1386051
ClinVar RCV Id: RCV001871509
dbSNP Id: rs2108750434
MyVariant Identifiers: chr3:g.129251382G>A (hg19) chr3:g.129532539G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532539G>A , CM000665.2:g.129532539G>A GRCh38
NC_000003.11:g.129251382G>A , CM000665.1:g.129251382G>A GRCh37
NC_000003.10:g.130734072G>A NCBI36
NG_009115.1:g.8901G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.703G>A MANE Select ENSP00000296271.3:p.Ala235Thr
ENST00000296271.3:c.703G>A ENSP00000296271.3:p.Ala235Thr
NM_000539.3:c.703G>A MANE Select NP_000530.1:p.Ala235Thr
Search 100 bp 5'
Search 100 bp 3'