Canonical Allele Identifier: CA354495416
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528788G>T , CM000665.2:g.129528788G>T GRCh38
NC_000003.11:g.129247631G>T , CM000665.1:g.129247631G>T GRCh37
NC_000003.10:g.130730321G>T NCBI36
NG_009115.1:g.5150G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.55G>T MANE Select ENSP00000296271.3:p.Val19Leu
ENST00000296271.3:c.55G>T ENSP00000296271.3:p.Val19Leu
NM_000539.3:c.55G>T MANE Select NP_000530.1:p.Val19Leu