Canonical Allele Identifier: CA354496422
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1499138
ClinVar RCV Id: RCV002010446
dbSNP Id: rs1248203737
MyVariant Identifiers: chr3:g.129247808A>T (hg19) chr3:g.129528965A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528965A>T , CM000665.2:g.129528965A>T GRCh38
NC_000003.11:g.129247808A>T , CM000665.1:g.129247808A>T GRCh37
NC_000003.10:g.130730498A>T NCBI36
NG_009115.1:g.5327A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.232A>T MANE Select ENSP00000296271.3:p.Asn78Tyr
ENST00000296271.3:c.232A>T ENSP00000296271.3:p.Asn78Tyr
NM_000539.3:c.232A>T MANE Select NP_000530.1:p.Asn78Tyr
Search 100 bp 5'
Search 100 bp 3'