Canonical Allele Identifier: CA435643837
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129249774G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530931G>C , CM000665.2:g.129530931G>C GRCh38
NC_000003.11:g.129249774G>C , CM000665.1:g.129249774G>C GRCh37
NC_000003.10:g.130732464G>C NCBI36
NG_009115.1:g.7293G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.417G>C MANE Select ENSP00000296271.3:p.Val139=
ENST00000296271.3:c.417G>C ENSP00000296271.3:p.Val139=
NM_000539.3:c.417G>C MANE Select NP_000530.1:p.Val139=