Canonical Allele Identifier: CA2607101
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1653595
ClinVar RCV Id: RCV002161238
dbSNP Id: rs773808406
ExAC: 3:129247855 C / T
gnomAD v2: 3-129247855-C-T
gnomAD v4: 3-129529012-C-T
MyVariant Identifiers: chr3:g.129247855C>T (hg19) chr3:g.129529012C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529012C>T , CM000665.2:g.129529012C>T GRCh38
NC_000003.11:g.129247855C>T , CM000665.1:g.129247855C>T GRCh37
NC_000003.10:g.130730545C>T NCBI36
NG_009115.1:g.5374C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.279C>T MANE Select ENSP00000296271.3:p.Ser93=
ENST00000296271.3:c.279C>T ENSP00000296271.3:p.Ser93=
NM_000539.3:c.279C>T MANE Select NP_000530.1:p.Ser93=
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Search 100 bp 3'