Canonical Allele Identifier: CA354469962
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1442468
ClinVar RCV Id: RCV001953012
dbSNP Id: rs1299366616
gnomAD v4: 3-129532369-A-T
MyVariant Identifiers: chr3:g.129251212A>T (hg19) chr3:g.129532369A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532369A>T , CM000665.2:g.129532369A>T GRCh38
NC_000003.11:g.129251212A>T , CM000665.1:g.129251212A>T GRCh37
NC_000003.10:g.130733902A>T NCBI36
NG_009115.1:g.8731A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.649A>T MANE Select ENSP00000296271.3:p.Ile217Phe
ENST00000296271.3:c.649A>T ENSP00000296271.3:p.Ile217Phe
NM_000539.3:c.649A>T MANE Select NP_000530.1:p.Ile217Phe
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