Canonical Allele Identifier: CA354469709
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129251143C>T (hg19) chr3:g.129532300C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532300C>T , CM000665.2:g.129532300C>T GRCh38
NC_000003.11:g.129251143C>T , CM000665.1:g.129251143C>T GRCh37
NC_000003.10:g.130733833C>T NCBI36
NG_009115.1:g.8662C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.580C>T MANE Select ENSP00000296271.3:p.Leu194Phe
ENST00000296271.3:c.580C>T ENSP00000296271.3:p.Leu194Phe
NM_000539.3:c.580C>T MANE Select NP_000530.1:p.Leu194Phe
Search 100 bp 5'
Search 100 bp 3'