Canonical Allele Identifier: CA354471262
Gene: RHO HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533701C>G , CM000665.2:g.129533701C>G GRCh38
NC_000003.11:g.129252544C>G , CM000665.1:g.129252544C>G GRCh37
NC_000003.10:g.130735234C>G NCBI36
NG_009115.1:g.10063C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.1030C>G MANE Select ENSP00000296271.3:p.Gln344Glu
ENST00000296271.3:c.1030C>G ENSP00000296271.3:p.Gln344Glu
NM_000539.3:c.1030C>G MANE Select NP_000530.1:p.Gln344Glu