Canonical Allele Identifier: CA82649535
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs755921724
gnomAD v2: 3-129250791-AC-A
gnomAD v3: 3-129531948-AC-A
gnomAD v4: 3-129531948-AC-A
MyVariant Identifiers: chr3:g.129250792del (hg19) chr3:g.129531949del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531951del , CM000665.2:g.129531951del GRCh38
NC_000003.11:g.129250794del , CM000665.1:g.129250794del GRCh37
NC_000003.10:g.130733484del NCBI36
NG_009115.1:g.8313del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.531-300del MANE Select ENSP00000296271.3:n.531-300del
ENST00000296271.3:c.531-300del ENSP00000296271.3:n.531-300del
NM_000539.3:c.531-300del MANE Select NP_000530.1:n.531-300del
Search 100 bp 5'
Search 100 bp 3'