Canonical Allele Identifier: CA354495918
Gene: RHO HGNC NCBI

Linked Data

COSMIC: COSM3060222
MyVariant Identifiers: chr3:g.129247719T>C (hg19) chr3:g.129528876T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528876T>C , CM000665.2:g.129528876T>C GRCh38
NC_000003.11:g.129247719T>C , CM000665.1:g.129247719T>C GRCh37
NC_000003.10:g.130730409T>C NCBI36
NG_009115.1:g.5238T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.143T>C MANE Select ENSP00000296271.3:p.Ile48Thr
ENST00000296271.3:c.143T>C ENSP00000296271.3:p.Ile48Thr
NM_000539.3:c.143T>C MANE Select NP_000530.1:p.Ile48Thr
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Search 100 bp 3'