Canonical Allele Identifier: CA546228061
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1439550769
gnomAD v2: 3-129249388-C-CAA
gnomAD v3: 3-129530545-C-CAA
gnomAD v4: 3-129530545-C-CAA
MyVariant Identifiers: chr3:g.129249388_129249389insAA (hg19) chr3:g.129530545_129530546insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530546_129530547insAA , CM000665.2:g.129530546_129530547insAA GRCh38
NC_000003.11:g.129249389_129249390insAA , CM000665.1:g.129249389_129249390insAA GRCh37
NC_000003.10:g.130732079_130732080insAA NCBI36
NG_009115.1:g.6908_6909insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-330_362-329insAA MANE Select ENSP00000296271.3:n.362-330_362-329insAA
ENST00000296271.3:c.362-330_362-329insAA ENSP00000296271.3:n.362-330_362-329insAA
NM_000539.3:c.362-330_362-329insAA MANE Select NP_000530.1:n.362-330_362-329insAA
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