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: CA58335696

Gene: MMADHC-DT HGNC NCBI

Linked Data

dbSNP Id: rs919398696

gnomAD v3: 2-149601032-G-A

gnomAD v4: 2-149601032-G-A

MyVariant Identifiers: chr2:g.150457546G>A (hg19) chr2:g.149601032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149601032G>A , CM000664.2:g.149601032G>A	GRCh38
NC_000002.11:g.150457546G>A , CM000664.1:g.150457546G>A	GRCh37
NC_000002.10:g.150165792G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110240.1:n.493+13182G>A

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