Canonical Allele Identifier: CA354470333
Gene: RHO HGNC NCBI

Linked Data

COSMIC: COSM6305876
MyVariant Identifiers: chr3:g.129251451G>T (hg19) chr3:g.129532608G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532608G>T , CM000665.2:g.129532608G>T GRCh38
NC_000003.11:g.129251451G>T , CM000665.1:g.129251451G>T GRCh37
NC_000003.10:g.130734141G>T NCBI36
NG_009115.1:g.8970G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.772G>T MANE Select ENSP00000296271.3:p.Val258Phe
ENST00000296271.3:c.772G>T ENSP00000296271.3:p.Val258Phe
NM_000539.3:c.772G>T MANE Select NP_000530.1:p.Val258Phe
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