Canonical Allele Identifier: CA354497004
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529083C>T , CM000665.2:g.129529083C>T GRCh38
NC_000003.11:g.129247926C>T , CM000665.1:g.129247926C>T GRCh37
NC_000003.10:g.130730616C>T NCBI36
NG_009115.1:g.5445C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.350C>T MANE Select ENSP00000296271.3:p.Ala117Val
ENST00000296271.3:c.350C>T ENSP00000296271.3:p.Ala117Val
NM_000539.3:c.350C>T MANE Select NP_000530.1:p.Ala117Val