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: CA87623739

Gene: TERC HGNC NCBI

Linked Data

ClinVar Variation Id: 570713

ClinVar RCV Id: RCV000691642 RCV001508509

dbSNP Id: rs1046452760

MyVariant Identifiers: chr3:g.169482458G>A (hg19) chr3:g.169764670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169764670G>A , CM000665.2:g.169764670G>A	GRCh38
NC_000003.11:g.169482458G>A , CM000665.1:g.169482458G>A	GRCh37
NC_000003.10:g.170965152G>A	NCBI36
NG_016363.1:g.5391C>T , LRG_347:g.5391C>T

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.391C>T , LRG_347t1:n.391C>T

Search 100 bp 5'

Search 100 bp 3'