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: CA15677615

Gene: MS4A6A HGNC NCBI

Linked Data

dbSNP Id: rs610932

gnomAD v2: 11-59939307-T-G

gnomAD v3: 11-60171834-T-G

gnomAD v4: 11-60171834-T-G

MyVariant Identifiers: chr11:g.59939307T>G (hg19) chr11:g.60171834T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.60171834T>G , CM000673.2:g.60171834T>G	GRCh38
NC_000011.9:g.59939307T>G , CM000673.1:g.59939307T>G	GRCh37
NC_000011.8:g.59695883T>G	NCBI36
NG_033978.1:g.17833A>C

Transcript Alleles

HGVS	Amino-acid change
NM_152851.2:c.*430A>C	NP_690590.1:n.*430A>C
NM_152852.2:c.*324A>C	NP_690591.1:n.*324A>C
NM_152852.3:c.*324A>C	NP_690591.1:n.*324A>C

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