Canonical Allele Identifier: CA546228041
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1176304531
gnomAD v2: 3-129249369-C-CA
gnomAD v3: 3-129530526-C-CA
gnomAD v4: 3-129530526-C-CA
MyVariant Identifiers: chr3:g.129249369_129249370insA (hg19) chr3:g.129530526_129530527insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530527dup , CM000665.2:g.129530527dup GRCh38
NC_000003.11:g.129249370dup , CM000665.1:g.129249370dup GRCh37
NC_000003.10:g.130732060dup NCBI36
NG_009115.1:g.6889dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-349dup MANE Select ENSP00000296271.3:n.362-349dup
ENST00000296271.3:c.362-349dup ENSP00000296271.3:n.362-349dup
NM_000539.3:c.362-349dup MANE Select NP_000530.1:n.362-349dup
Search 100 bp 5'
Search 100 bp 3'