Canonical Allele Identifier: CA256688
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13048
ClinVar RCV Id: RCV000013923 RCV001851839
dbSNP Id: rs104893788
gnomAD v4: 3-129529074-G-A
MyVariant Identifiers: chr3:g.129247917G>A (hg19) chr3:g.129529074G>A (hg38)
PubMed: PMID:8088850
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529074G>A , CM000665.2:g.129529074G>A GRCh38
NC_000003.11:g.129247917G>A , CM000665.1:g.129247917G>A GRCh37
NC_000003.10:g.130730607G>A NCBI36
NG_009115.1:g.5436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.341G>A MANE Select ENSP00000296271.3:p.Gly114Asp
ENST00000296271.3:c.341G>A ENSP00000296271.3:p.Gly114Asp
NM_000539.3:c.341G>A MANE Select NP_000530.1:p.Gly114Asp
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