Canonical Allele Identifier: CA354470787
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 984768
ClinVar RCV Id: RCV001265162
dbSNP Id: rs29001653
MyVariant Identifiers: chr3:g.129251565A>C (hg19) chr3:g.129532722A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532722A>C , CM000665.2:g.129532722A>C GRCh38
NC_000003.11:g.129251565A>C , CM000665.1:g.129251565A>C GRCh37
NC_000003.10:g.130734255A>C NCBI36
NG_009115.1:g.9084A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.886A>C MANE Select ENSP00000296271.3:p.Lys296Gln
ENST00000296271.3:c.886A>C ENSP00000296271.3:p.Lys296Gln
NM_000539.3:c.886A>C MANE Select NP_000530.1:p.Lys296Gln
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Search 100 bp 3'