Canonical Allele Identifier: CA2607115
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1927289
ClinVar RCV Id: RCV002631095
dbSNP Id: rs148801522
ExAC: 3:129247923 T / A
gnomAD v2: 3-129247923-T-A
gnomAD v3: 3-129529080-T-A
gnomAD v4: 3-129529080-T-A
MyVariant Identifiers: chr3:g.129247923T>A (hg19) chr3:g.129529080T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529080T>A , CM000665.2:g.129529080T>A GRCh38
NC_000003.11:g.129247923T>A , CM000665.1:g.129247923T>A GRCh37
NC_000003.10:g.130730613T>A NCBI36
NG_009115.1:g.5442T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.347T>A MANE Select ENSP00000296271.3:p.Phe116Tyr
ENST00000296271.3:c.347T>A ENSP00000296271.3:p.Phe116Tyr
NM_000539.3:c.347T>A MANE Select NP_000530.1:p.Phe116Tyr
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