Canonical Allele Identifier: CA82648376
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs912562061
gnomAD v3: 3-129530812-A-AG
gnomAD v4: 3-129530812-A-AG
MyVariant Identifiers: chr3:g.129249655_129249656insG (hg19) chr3:g.129530812_129530813insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530818dup , CM000665.2:g.129530818dup GRCh38
NC_000003.11:g.129249661dup , CM000665.1:g.129249661dup GRCh37
NC_000003.10:g.130732351dup NCBI36
NG_009115.1:g.7180dup

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.362-58dup MANE Select ENSP00000296271.3:n.362-58dup
ENST00000296271.3:c.362-58dup ENSP00000296271.3:n.362-58dup
NM_000539.3:c.362-58dup MANE Select NP_000530.1:n.362-58dup
Search 100 bp 5'
Search 100 bp 3'