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: CA596746489

Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs925371749

gnomAD v2: 10-135340679-C-G

gnomAD v3: 10-133527175-C-G

gnomAD v4: 10-133527175-C-G

MyVariant Identifiers: chr10:g.135340679C>G (hg19) chr10:g.133527175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133527175C>G , CM000672.2:g.133527175C>G	GRCh38
NC_000010.10:g.135340679C>G , CM000672.1:g.135340679C>G	GRCh37
NC_000010.9:g.135190669C>G	NCBI36
NG_008383.1:g.4813C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463117.6:c.-39-182C>G	ENSP00000440689.1:n.-39-182C>G
ENST00000541261.1:c.-39-182C>G	ENSP00000437799.1:n.-39-182C>G

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