Canonical Allele Identifier: CA354496868
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1514513
ClinVar RCV Id: RCV002048281
dbSNP Id: rs1578278417
MyVariant Identifiers: chr3:g.129247893G>C (hg19) chr3:g.129529050G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529050G>C , CM000665.2:g.129529050G>C GRCh38
NC_000003.11:g.129247893G>C , CM000665.1:g.129247893G>C GRCh37
NC_000003.10:g.130730583G>C NCBI36
NG_009115.1:g.5412G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.317G>C MANE Select ENSP00000296271.3:p.Gly106Ala
ENST00000296271.3:c.317G>C ENSP00000296271.3:p.Gly106Ala
NM_000539.3:c.317G>C MANE Select NP_000530.1:p.Gly106Ala
Search 100 bp 5'
Search 100 bp 3'