Canonical Allele Identifier: CA2607112
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs751153075
ExAC: 3:129247897 C / CA
gnomAD v2: 3-129247897-C-CA
MyVariant Identifiers: chr3:g.129247897_129247898insA (hg19) chr3:g.129529054_129529055insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529055dup , CM000665.2:g.129529055dup GRCh38
NC_000003.11:g.129247898dup , CM000665.1:g.129247898dup GRCh37
NC_000003.10:g.130730588dup NCBI36
NG_009115.1:g.5417dup

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.322dup MANE Select ENSP00000296271.3:p.Thr108AsnfsTer15
ENST00000296271.3:c.322dup ENSP00000296271.3:p.Thr108AsnfsTer15
NM_000539.3:c.322dup MANE Select NP_000530.1:p.Thr108AsnfsTer15
Search 100 bp 5'
Search 100 bp 3'