Canonical Allele Identifier: CA2667615538
Gene: RHO HGNC NCBI

Linked Data

gnomAD v4: 3-129529051-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529054dup , CM000665.2:g.129529054dup GRCh38
NC_000003.11:g.129247897dup , CM000665.1:g.129247897dup GRCh37
NC_000003.10:g.130730587dup NCBI36
NG_009115.1:g.5416dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.321dup MANE Select ENSP00000296271.3:p.Thr108HisfsTer15
ENST00000296271.3:c.321dup ENSP00000296271.3:p.Thr108HisfsTer15
NM_000539.3:c.321dup MANE Select NP_000530.1:p.Thr108HisfsTer15
Search 100 bp 5'
Search 100 bp 3'