Canonical Allele Identifier: CA354499087
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2858897
ClinVar RCV Id: RCV003699594
MyVariant Identifiers: chr3:g.129251099T>A (hg19) chr3:g.129532256T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532256T>A , CM000665.2:g.129532256T>A GRCh38
NC_000003.11:g.129251099T>A , CM000665.1:g.129251099T>A GRCh37
NC_000003.10:g.130733789T>A NCBI36
NG_009115.1:g.8618T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.536T>A MANE Select ENSP00000296271.3:p.Ile179Asn
ENST00000296271.3:c.536T>A ENSP00000296271.3:p.Ile179Asn
NM_000539.3:c.536T>A MANE Select NP_000530.1:p.Ile179Asn
Search 100 bp 5'
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