Canonical Allele Identifier: CA354469867
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2108750357

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532343T>G , CM000665.2:g.129532343T>G GRCh38
NC_000003.11:g.129251186T>G , CM000665.1:g.129251186T>G GRCh37
NC_000003.10:g.130733876T>G NCBI36
NG_009115.1:g.8705T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.623T>G MANE Select ENSP00000296271.3:p.Phe208Cys
ENST00000296271.3:c.623T>G ENSP00000296271.3:p.Phe208Cys
NM_000539.3:c.623T>G MANE Select NP_000530.1:p.Phe208Cys