Canonical Allele Identifier: CA354498363
Gene: RHO HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.129530972C>T
GRCh37 chr3:g.129249815C>T
Revel Score:
ENST00000296271 (MANE Select) 0.668
gnomAD v3:
3:129530972 C / T
gnomAD v4:
chr3-129530972-C-T
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV002018102
ClinVar Variation:
1509710
dbSNP:
1418964117
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530972C>T , CM000665.2:g.129530972C>T GRCh38
NC_000003.11:g.129249815C>T , CM000665.1:g.129249815C>T GRCh37
NC_000003.10:g.130732505C>T NCBI36
NG_009115.1:g.7334C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.458C>T MANE Select ENSP00000296271.3:p.Ala153Val
ENST00000296271.3:c.458C>T ENSP00000296271.3:p.Ala153Val
NM_000539.3:c.458C>T MANE Select NP_000530.1:p.Ala153Val
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