Canonical Allele Identifier: CA354496429
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2203431
ClinVar RCV Id: RCV002651738 RCV003889267
MyVariant Identifiers: chr3:g.129247809A>T (hg19) chr3:g.129528966A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528966A>T , CM000665.2:g.129528966A>T GRCh38
NC_000003.11:g.129247809A>T , CM000665.1:g.129247809A>T GRCh37
NC_000003.10:g.130730499A>T NCBI36
NG_009115.1:g.5328A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.233A>T MANE Select ENSP00000296271.3:p.Asn78Ile
ENST00000296271.3:c.233A>T ENSP00000296271.3:p.Asn78Ile
NM_000539.3:c.233A>T MANE Select NP_000530.1:p.Asn78Ile
Search 100 bp 5'
Search 100 bp 3'