Canonical Allele Identifier: CA354496800
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1351483
ClinVar RCV Id: RCV002044759
dbSNP Id: rs2084758850
MyVariant Identifiers: chr3:g.129247880T>A (hg19) chr3:g.129529037T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529037T>A , CM000665.2:g.129529037T>A GRCh38
NC_000003.11:g.129247880T>A , CM000665.1:g.129247880T>A GRCh37
NC_000003.10:g.130730570T>A NCBI36
NG_009115.1:g.5399T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.304T>A MANE Select ENSP00000296271.3:p.Tyr102Asn
ENST00000296271.3:c.304T>A ENSP00000296271.3:p.Tyr102Asn
NM_000539.3:c.304T>A MANE Select NP_000530.1:p.Tyr102Asn
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