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: CA800706457

Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1230900788

gnomAD v3: 4-99321753-G-A

gnomAD v4: 4-99321753-G-A

MyVariant Identifiers: chr4:g.100242910G>A (hg19) chr4:g.99321753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99321753G>A , CM000666.2:g.99321753G>A	GRCh38
NC_000004.11:g.100242910G>A , CM000666.1:g.100242910G>A	GRCh37
NC_000004.10:g.100461933G>A	NCBI36
NG_011435.1:g.4663C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000639454.1:c.19-2867C>T	ENSP00000491622.1:n.19-2867C>T

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