Canonical Allele Identifier: CA354496002
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1353767
ClinVar RCV Id: RCV001863589
dbSNP Id: rs1312862210
MyVariant Identifiers: chr3:g.129247741C>G (hg19) chr3:g.129528898C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528898C>G , CM000665.2:g.129528898C>G GRCh38
NC_000003.11:g.129247741C>G , CM000665.1:g.129247741C>G GRCh37
NC_000003.10:g.130730431C>G NCBI36
NG_009115.1:g.5260C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.165C>G MANE Select ENSP00000296271.3:p.Asn55Lys
ENST00000296271.3:c.165C>G ENSP00000296271.3:p.Asn55Lys
NM_000539.3:c.165C>G MANE Select NP_000530.1:p.Asn55Lys
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