Canonical Allele Identifier: CA354498057
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1455410
ClinVar RCV Id: RCV001946576
dbSNP Id: rs104893774
MyVariant Identifiers: chr3:g.129249761G>C (hg19) chr3:g.129530918G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530918G>C , CM000665.2:g.129530918G>C GRCh38
NC_000003.11:g.129249761G>C , CM000665.1:g.129249761G>C GRCh37
NC_000003.10:g.130732451G>C NCBI36
NG_009115.1:g.7280G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.404G>C MANE Select ENSP00000296271.3:p.Arg135Pro
ENST00000296271.3:c.404G>C ENSP00000296271.3:p.Arg135Pro
NM_000539.3:c.404G>C MANE Select NP_000530.1:p.Arg135Pro
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