Canonical Allele Identifier: CA354496911
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 867081
ClinVar RCV Id: RCV001075603 RCV001265180 RCV001389459 RCV001542565 RCV003324555
dbSNP Id: rs1578278438
gnomAD v4: 3-129529061-T-C
MyVariant Identifiers: chr3:g.129247904T>C (hg19) chr3:g.129529061T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529061T>C , CM000665.2:g.129529061T>C GRCh38
NC_000003.11:g.129247904T>C , CM000665.1:g.129247904T>C GRCh37
NC_000003.10:g.130730594T>C NCBI36
NG_009115.1:g.5423T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.328T>C MANE Select ENSP00000296271.3:p.Cys110Arg
ENST00000296271.3:c.328T>C ENSP00000296271.3:p.Cys110Arg
NM_000539.3:c.328T>C MANE Select NP_000530.1:p.Cys110Arg
Search 100 bp 5'
Search 100 bp 3'