Canonical Allele Identifier: CA1053434404
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2084757540
gnomAD v3: 3-129528917-A-AC
gnomAD v4: 3-129528917-A-AC
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528919dup , CM000665.2:g.129528919dup GRCh38
NC_000003.11:g.129247762dup , CM000665.1:g.129247762dup GRCh37
NC_000003.10:g.130730452dup NCBI36
NG_009115.1:g.5281dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.186dup MANE Select ENSP00000296271.3:p.Val63ArgfsTer21
ENST00000296271.3:c.186dup ENSP00000296271.3:p.Val63ArgfsTer21
NM_000539.3:c.186dup MANE Select NP_000530.1:p.Val63ArgfsTer21
Search 100 bp 5'
Search 100 bp 3'