Canonical Allele Identifier: CA354499115
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1060030
ClinVar RCV Id: RCV001369404
dbSNP Id: rs2084785483
MyVariant Identifiers: chr3:g.129251102C>G (hg19) chr3:g.129532259C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532259C>G , CM000665.2:g.129532259C>G GRCh38
NC_000003.11:g.129251102C>G , CM000665.1:g.129251102C>G GRCh37
NC_000003.10:g.130733792C>G NCBI36
NG_009115.1:g.8621C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.539C>G MANE Select ENSP00000296271.3:p.Pro180Arg
ENST00000296271.3:c.539C>G ENSP00000296271.3:p.Pro180Arg
NM_000539.3:c.539C>G MANE Select NP_000530.1:p.Pro180Arg
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