Canonical Allele Identifier: CA435768946
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129247747C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528904C>A , CM000665.2:g.129528904C>A GRCh38
NC_000003.11:g.129247747C>A , CM000665.1:g.129247747C>A GRCh37
NC_000003.10:g.130730437C>A NCBI36
NG_009115.1:g.5266C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.171C>A MANE Select ENSP00000296271.3:p.Leu57=
ENST00000296271.3:c.171C>A ENSP00000296271.3:p.Leu57=
NM_000539.3:c.171C>A MANE Select NP_000530.1:p.Leu57=