Canonical Allele Identifier: CA435643976
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2108749960
MyVariant Identifiers: chr3:g.129249813T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530970T>C , CM000665.2:g.129530970T>C GRCh38
NC_000003.11:g.129249813T>C , CM000665.1:g.129249813T>C GRCh37
NC_000003.10:g.130732503T>C NCBI36
NG_009115.1:g.7332T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.456T>C MANE Select ENSP00000296271.3:p.His152=
ENST00000296271.3:c.456T>C ENSP00000296271.3:p.His152=
NM_000539.3:c.456T>C MANE Select NP_000530.1:p.His152=