Canonical Allele Identifier: CA435644652
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129251112G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532269G>A , CM000665.2:g.129532269G>A GRCh38
NC_000003.11:g.129251112G>A , CM000665.1:g.129251112G>A GRCh37
NC_000003.10:g.130733802G>A NCBI36
NG_009115.1:g.8631G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.549G>A MANE Select ENSP00000296271.3:p.Leu183=
ENST00000296271.3:c.549G>A ENSP00000296271.3:p.Leu183=
NM_000539.3:c.549G>A MANE Select NP_000530.1:p.Leu183=