Canonical Allele Identifier: CA2607210
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 3027576
ClinVar RCV Id: RCV003890830
dbSNP Id: rs373974298
ExAC: 3:129251141 C / A
gnomAD v2: 3-129251141-C-A
gnomAD v4: 3-129532298-C-A
MyVariant Identifiers: chr3:g.129251141C>A (hg19) chr3:g.129532298C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532298C>A , CM000665.2:g.129532298C>A GRCh38
NC_000003.11:g.129251141C>A , CM000665.1:g.129251141C>A GRCh37
NC_000003.10:g.130733831C>A NCBI36
NG_009115.1:g.8660C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.578C>A MANE Select ENSP00000296271.3:p.Thr193Lys
ENST00000296271.3:c.578C>A ENSP00000296271.3:p.Thr193Lys
NM_000539.3:c.578C>A MANE Select NP_000530.1:p.Thr193Lys
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