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: CA2607114

Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs104893788

ExAC: 3:129247917 G / C

gnomAD v2: 3-129247917-G-C

gnomAD v4: 3-129529074-G-C

MyVariant Identifiers: chr3:g.129247917G>C (hg19) chr3:g.129529074G>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529074G>C , CM000665.2:g.129529074G>C	GRCh38
NC_000003.11:g.129247917G>C , CM000665.1:g.129247917G>C	GRCh37
NC_000003.10:g.130730607G>C	NCBI36
NG_009115.1:g.5436G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.341G>C MANE Select	ENSP00000296271.3:p.Gly114Ala
ENST00000296271.3:c.341G>C	ENSP00000296271.3:p.Gly114Ala
NM_000539.3:c.341G>C MANE Select	NP_000530.1:p.Gly114Ala

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