Canonical Allele Identifier: CA546228028
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs146327704
gnomAD v2: 3-129249349-A-AAC
gnomAD v3: 3-129530506-A-AAC
gnomAD v4: 3-129530506-A-AAC
MyVariant Identifiers: chr3:g.129249355_129249356insAC (hg19) chr3:g.129249349_129249350insAC (hg19) chr3:g.129530512_129530513insAC (hg38) chr3:g.129530506_129530507insAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530532_129530533dup , CM000665.2:g.129530532_129530533dup GRCh38
NC_000003.11:g.129249375_129249376dup , CM000665.1:g.129249375_129249376dup GRCh37
NC_000003.10:g.130732065_130732066dup NCBI36
NG_009115.1:g.6894_6895dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-344_362-343dup MANE Select ENSP00000296271.3:n.362-344_362-343dup
ENST00000296271.3:c.362-344_362-343dup ENSP00000296271.3:n.362-344_362-343dup
NM_000539.3:c.362-344_362-343dup MANE Select NP_000530.1:n.362-344_362-343dup
Search 100 bp 5'
Search 100 bp 3'