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: CA2579088533

Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877714-C-G

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877714C>G , CM000670.2:g.6877714C>G	GRCh38
NC_000008.10:g.6735236C>G , CM000670.1:g.6735236C>G	GRCh37
NC_000008.9:g.6722646C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.61+83G>C MANE Select	ENSP00000297439.3:n.61+83G>C
ENST00000297439.3:c.61+83G>C	ENSP00000297439.3:n.61+83G>C
NM_005218.3:c.61+83G>C	NP_005209.1:n.61+83G>C
NM_005218.4:c.61+83G>C MANE Select	NP_005209.1:n.61+83G>C

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