Canonical Allele Identifier: CA82648050
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs200054443
gnomAD v2: 3-129249325-ACATTAGGATG-A
gnomAD v3: 3-129530482-ACATTAGGATG-A
gnomAD v4: 3-129530482-ACATTAGGATG-A
MyVariant Identifiers: chr3:g.129249326_129249335del (hg19) chr3:g.129530483_129530492del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530487_129530496del , CM000665.2:g.129530487_129530496del GRCh38
NC_000003.11:g.129249330_129249339del , CM000665.1:g.129249330_129249339del GRCh37
NC_000003.10:g.130732020_130732029del NCBI36
NG_009115.1:g.6849_6858del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-389_362-380del MANE Select ENSP00000296271.3:n.362-389_362-380del
ENST00000296271.3:c.362-389_362-380del ENSP00000296271.3:n.362-389_362-380del
NM_000539.3:c.362-389_362-380del MANE Select NP_000530.1:n.362-389_362-380del
Search 100 bp 5'
Search 100 bp 3'