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: CA436715328

Gene: TERC HGNC NCBI

Linked Data

dbSNP Id: rs1336382572

gnomAD v2: 3-169482614-G-T

gnomAD v4: 3-169764826-G-T

MyVariant Identifiers: chr3:g.169482614G>T (hg19) chr3:g.169764826G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169764826G>T , CM000665.2:g.169764826G>T	GRCh38
NC_000003.11:g.169482614G>T , CM000665.1:g.169482614G>T	GRCh37
NC_000003.10:g.170965308G>T	NCBI36
NG_016363.1:g.5235C>A , LRG_347:g.5235C>A

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.235C>A , LRG_347t1:n.235C>A

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