Canonical Allele Identifier: CA82649591
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs978344646
gnomAD v2: 3-129250880-C-T
gnomAD v3: 3-129532037-C-T
gnomAD v4: 3-129532037-C-T
MyVariant Identifiers: chr3:g.129250880C>T (hg19) chr3:g.129532037C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532037C>T , CM000665.2:g.129532037C>T GRCh38
NC_000003.11:g.129250880C>T , CM000665.1:g.129250880C>T GRCh37
NC_000003.10:g.130733570C>T NCBI36
NG_009115.1:g.8399C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.531-214C>T MANE Select ENSP00000296271.3:n.531-214C>T
ENST00000296271.3:c.531-214C>T ENSP00000296271.3:n.531-214C>T
NM_000539.3:c.531-214C>T MANE Select NP_000530.1:n.531-214C>T
Search 100 bp 5'
Search 100 bp 3'