Canonical Allele Identifier: CA2607248
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs749155432
ExAC: 3:129251268 CG / C
gnomAD v2: 3-129251268-CG-C
gnomAD v3: 3-129532425-CG-C
gnomAD v4: 3-129532425-CG-C
COSMIC: COSM5547920
MyVariant Identifiers: chr3:g.129251269del (hg19) chr3:g.129532427del (hg38) chr3:g.129532426del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532431del , CM000665.2:g.129532431del GRCh38
NC_000003.11:g.129251274del , CM000665.1:g.129251274del GRCh37
NC_000003.10:g.130733964del NCBI36
NG_009115.1:g.8793del

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.696+15del MANE Select ENSP00000296271.3:n.696+15del
ENST00000296271.3:c.696+15del ENSP00000296271.3:n.696+15del
NM_000539.3:c.696+15del MANE Select NP_000530.1:n.696+15del
Search 100 bp 5'
Search 100 bp 3'