Canonical Allele Identifier: CA354470033
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532387T>C , CM000665.2:g.129532387T>C GRCh38
NC_000003.11:g.129251230T>C , CM000665.1:g.129251230T>C GRCh37
NC_000003.10:g.130733920T>C NCBI36
NG_009115.1:g.8749T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.667T>C MANE Select ENSP00000296271.3:p.Tyr223His
ENST00000296271.3:c.667T>C ENSP00000296271.3:p.Tyr223His
NM_000539.3:c.667T>C MANE Select NP_000530.1:p.Tyr223His