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: CA726686572

Gene: TOP3A HGNC NCBI

Linked Data

dbSNP Id: rs1249237674

gnomAD v4: 17-18271369-T-C

MyVariant Identifiers: chr17:g.18174683T>C (hg19) chr17:g.18271369T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18271369T>C , CM000679.2:g.18271369T>C	GRCh38
NC_000017.10:g.18174683T>C , CM000679.1:g.18174683T>C	GRCh37
NC_000017.9:g.18115408T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011524001.2:c.*3433A>G	XP_011522303.1:n.*3433A>G
XM_024450903.1:c.*3433A>G	XP_024306671.1:n.*3433A>G
XR_001752601.2:n.6714A>G

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