Canonical Allele Identifier: CA435768867
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129247636A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528793A>C , CM000665.2:g.129528793A>C GRCh38
NC_000003.11:g.129247636A>C , CM000665.1:g.129247636A>C GRCh37
NC_000003.10:g.130730326A>C NCBI36
NG_009115.1:g.5155A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.60A>C MANE Select ENSP00000296271.3:p.Val20=
ENST00000296271.3:c.60A>C ENSP00000296271.3:p.Val20=
NM_000539.3:c.60A>C MANE Select NP_000530.1:p.Val20=