Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA354499043

Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2203433

ClinVar RCV Id: RCV002651740

MyVariant Identifiers: chr3:g.129251092A>G (hg19) chr3:g.129532249A>G (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532249A>G , CM000665.2:g.129532249A>G	GRCh38
NC_000003.11:g.129251092A>G , CM000665.1:g.129251092A>G	GRCh37
NC_000003.10:g.130733782A>G	NCBI36
NG_009115.1:g.8611A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.531-2A>G MANE Select	ENSP00000296271.3:n.531-2A>G
ENST00000296271.3:c.531-2A>G	ENSP00000296271.3:n.531-2A>G
NM_000539.3:c.531-2A>G MANE Select	NP_000530.1:n.531-2A>G

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