Canonical Allele Identifier: CA354470994
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532755A>C , CM000665.2:g.129532755A>C GRCh38
NC_000003.11:g.129251598A>C , CM000665.1:g.129251598A>C GRCh37
NC_000003.10:g.130734288A>C NCBI36
NG_009115.1:g.9117A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.919A>C MANE Select ENSP00000296271.3:p.Ile307Leu
ENST00000296271.3:c.919A>C ENSP00000296271.3:p.Ile307Leu
NM_000539.3:c.919A>C MANE Select NP_000530.1:p.Ile307Leu