Canonical Allele Identifier: CA354471054
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532771A>T , CM000665.2:g.129532771A>T GRCh38
NC_000003.11:g.129251614A>T , CM000665.1:g.129251614A>T GRCh37
NC_000003.10:g.130734304A>T NCBI36
NG_009115.1:g.9133A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.935A>T MANE Select ENSP00000296271.3:p.Gln312Leu
ENST00000296271.3:c.935A>T ENSP00000296271.3:p.Gln312Leu
NM_000539.3:c.935A>T MANE Select NP_000530.1:p.Gln312Leu