Canonical Allele Identifier: CA256667
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13020
ClinVar RCV Id: RCV000013894 RCV001198366
dbSNP Id: rs104893771
MyVariant Identifiers: chr3:g.129247836T>A (hg19) chr3:g.129528993T>A (hg38)
PubMed: PMID:1862076
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528993T>A , CM000665.2:g.129528993T>A GRCh38
NC_000003.11:g.129247836T>A , CM000665.1:g.129247836T>A GRCh37
NC_000003.10:g.130730526T>A NCBI36
NG_009115.1:g.5355T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.260T>A MANE Select ENSP00000296271.3:p.Val87Asp
ENST00000296271.3:c.260T>A ENSP00000296271.3:p.Val87Asp
NM_000539.3:c.260T>A MANE Select NP_000530.1:p.Val87Asp
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