Canonical Allele Identifier: CA898752329
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1480922923
gnomAD v3: 3-129531110-C-CA
gnomAD v4: 3-129531110-C-CA
MyVariant Identifiers: chr3:g.129249953_129249954insA (hg19) chr3:g.129531110_129531111insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531113dup , CM000665.2:g.129531113dup GRCh38
NC_000003.11:g.129249956dup , CM000665.1:g.129249956dup GRCh37
NC_000003.10:g.130732646dup NCBI36
NG_009115.1:g.7475dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.530+69dup MANE Select ENSP00000296271.3:n.530+69dup
ENST00000296271.3:c.530+69dup ENSP00000296271.3:n.530+69dup
NM_000539.3:c.530+69dup MANE Select NP_000530.1:n.530+69dup
Search 100 bp 5'
Search 100 bp 3'