Canonical Allele Identifier: CA546228037
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1180546861
gnomAD v2: 3-129249366-A-ACC
gnomAD v3: 3-129530523-A-ACC
gnomAD v4: 3-129530523-A-ACC
MyVariant Identifiers: chr3:g.129249366_129249367insCC (hg19) chr3:g.129530523_129530524insCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530524_129530525insCC , CM000665.2:g.129530524_129530525insCC GRCh38
NC_000003.11:g.129249367_129249368insCC , CM000665.1:g.129249367_129249368insCC GRCh37
NC_000003.10:g.130732057_130732058insCC NCBI36
NG_009115.1:g.6886_6887insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-352_362-351insCC MANE Select ENSP00000296271.3:n.362-352_362-351insCC
ENST00000296271.3:c.362-352_362-351insCC ENSP00000296271.3:n.362-352_362-351insCC
NM_000539.3:c.362-352_362-351insCC MANE Select NP_000530.1:n.362-352_362-351insCC
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