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: CA2581667133

Gene: SLC25A3P1 HGNC NCBI

Linked Data

dbSNP Id: rs1776421

gnomAD v3: 1-53418785-C-G

gnomAD v4: 1-53418785-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53418785C>G , CM000663.2:g.53418785C>G	GRCh38
NC_000001.10:g.53884457C>G , CM000663.1:g.53884457C>G	GRCh37
NC_000001.9:g.53657045C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000563752.5:n.202-1119G>C
XR_426691.2:n.27-1119G>C
XR_426692.2:n.20-1119G>C

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