Canonical Allele Identifier: CA354497883
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2084774703

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530884G>T , CM000665.2:g.129530884G>T GRCh38
NC_000003.11:g.129249727G>T , CM000665.1:g.129249727G>T GRCh37
NC_000003.10:g.130732417G>T NCBI36
NG_009115.1:g.7246G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.370G>T MANE Select ENSP00000296271.3:p.Ala124Ser
ENST00000296271.3:c.370G>T ENSP00000296271.3:p.Ala124Ser
NM_000539.3:c.370G>T MANE Select NP_000530.1:p.Ala124Ser