Canonical Allele Identifier: CA546228387
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1456881458
gnomAD v2: 3-129250713-C-G
gnomAD v3: 3-129531870-C-G
gnomAD v4: 3-129531870-C-G
MyVariant Identifiers: chr3:g.129250713C>G (hg19) chr3:g.129531870C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531870C>G , CM000665.2:g.129531870C>G GRCh38
NC_000003.11:g.129250713C>G , CM000665.1:g.129250713C>G GRCh37
NC_000003.10:g.130733403C>G NCBI36
NG_009115.1:g.8232C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.531-381C>G MANE Select ENSP00000296271.3:n.531-381C>G
ENST00000296271.3:c.531-381C>G ENSP00000296271.3:n.531-381C>G
NM_000539.3:c.531-381C>G MANE Select NP_000530.1:n.531-381C>G
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