Canonical Allele Identifier: CA354496452
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1351618
ClinVar RCV Id: RCV002044861
dbSNP Id: rs1176212506
gnomAD v2: 3-129247814-G-T
gnomAD v3: 3-129528971-G-T
gnomAD v4: 3-129528971-G-T
MyVariant Identifiers: chr3:g.129247814G>T (hg19) chr3:g.129528971G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528971G>T , CM000665.2:g.129528971G>T GRCh38
NC_000003.11:g.129247814G>T , CM000665.1:g.129247814G>T GRCh37
NC_000003.10:g.130730504G>T NCBI36
NG_009115.1:g.5333G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.238G>T MANE Select ENSP00000296271.3:p.Ala80Ser
ENST00000296271.3:c.238G>T ENSP00000296271.3:p.Ala80Ser
NM_000539.3:c.238G>T MANE Select NP_000530.1:p.Ala80Ser
Search 100 bp 5'
Search 100 bp 3'