Canonical Allele Identifier: CA2607030
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 256383
ClinVar RCV Id: RCV000244948 RCV000285210 RCV000377312 RCV001795402 RCV001675692 RCV001795401
dbSNP Id: rs7984
ExAC: 3:129247551 A / G
gnomAD v2: 3-129247551-A-G
gnomAD v3: 3-129528708-A-G
gnomAD v4: 3-129528708-A-G
MyVariant Identifiers: chr3:g.129247551A>G (hg19) chr3:g.129528708A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528708A>G , CM000665.2:g.129528708A>G GRCh38
NC_000003.11:g.129247551A>G , CM000665.1:g.129247551A>G GRCh37
NC_000003.10:g.130730241A>G NCBI36
NG_009115.1:g.5070A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.-26A>G MANE Select ENSP00000296271.3:n.-26A>G
ENST00000296271.3:c.-26A>G ENSP00000296271.3:n.-26A>G
NM_000539.3:c.-26A>G MANE Select NP_000530.1:n.-26A>G
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