Canonical Allele Identifier: CA354471172
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533656G>T , CM000665.2:g.129533656G>T GRCh38
NC_000003.11:g.129252499G>T , CM000665.1:g.129252499G>T GRCh37
NC_000003.10:g.130735189G>T NCBI36
NG_009115.1:g.10018G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.985G>T MANE Select ENSP00000296271.3:p.Gly329Cys
ENST00000296271.3:c.985G>T ENSP00000296271.3:p.Gly329Cys
NM_000539.3:c.985G>T MANE Select NP_000530.1:p.Gly329Cys