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: CA1946822099

Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1851278903

gnomAD v4: 10-133527079-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133527079C>A , CM000672.2:g.133527079C>A	GRCh38
NC_000010.10:g.135340583C>A , CM000672.1:g.135340583C>A	GRCh37
NC_000010.9:g.135190573C>A	NCBI36
NG_008383.1:g.4717C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463117.6:c.-40+206C>A	ENSP00000440689.1:n.-40+206C>A
ENST00000541261.1:c.-40+206C>A	ENSP00000437799.1:n.-40+206C>A

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