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: CA101653716

Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1000975210

gnomAD v3: 4-99321806-A-G

gnomAD v4: 4-99321806-A-G

MyVariant Identifiers: chr4:g.100242963A>G (hg19) chr4:g.99321806A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99321806A>G , CM000666.2:g.99321806A>G	GRCh38
NC_000004.11:g.100242963A>G , CM000666.1:g.100242963A>G	GRCh37
NC_000004.10:g.100461986A>G	NCBI36
NG_011435.1:g.4610T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000639454.1:c.19-2920T>C	ENSP00000491622.1:n.19-2920T>C

Search 100 bp 5'

Search 100 bp 3'