Canonical Allele Identifier: CA82648071
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs146327704
gnomAD v2: 3-129249349-AAC-A
gnomAD v3: 3-129530506-AAC-A
gnomAD v4: 3-129530506-AAC-A
MyVariant Identifiers: chr3:g.129249354_129249355del (hg19) chr3:g.129249350_129249351del (hg19) chr3:g.129530511_129530512del (hg38) chr3:g.129530507_129530508del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530532_129530533del , CM000665.2:g.129530532_129530533del GRCh38
NC_000003.11:g.129249375_129249376del , CM000665.1:g.129249375_129249376del GRCh37
NC_000003.10:g.130732065_130732066del NCBI36
NG_009115.1:g.6894_6895del

Transcript Alleles

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