Canonical Allele Identifier: CA354498223
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129249793T>C (hg19) chr3:g.129530950T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530950T>C , CM000665.2:g.129530950T>C GRCh38
NC_000003.11:g.129249793T>C , CM000665.1:g.129249793T>C GRCh37
NC_000003.10:g.130732483T>C NCBI36
NG_009115.1:g.7312T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.436T>C MANE Select ENSP00000296271.3:p.Phe146Leu
ENST00000296271.3:c.436T>C ENSP00000296271.3:p.Phe146Leu
NM_000539.3:c.436T>C MANE Select NP_000530.1:p.Phe146Leu
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