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: CA1065891704

Gene: ADH4 HGNC NCBI

Linked Data

dbSNP Id: rs1729841484

gnomAD v3: 4-99149764-T-C

gnomAD v4: 4-99149764-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99149764T>C , CM000666.2:g.99149764T>C	GRCh38
NC_000004.11:g.100070921T>C , CM000666.1:g.100070921T>C	GRCh37
NC_000004.10:g.100289944T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000504581.1:n.170-6984A>G
NR_037884.1:n.680-4781T>C

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