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: CA82071809

Gene: LSAMP HGNC NCBI

Linked Data

dbSNP Id: rs1003909960

gnomAD v3: 3-116462118-G-A

gnomAD v4: 3-116462118-G-A

MyVariant Identifiers: chr3:g.116180965G>A (hg19) chr3:g.116462118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.116462118G>A , CM000665.2:g.116462118G>A	GRCh38
NC_000003.11:g.116180965G>A , CM000665.1:g.116180965G>A	GRCh37
NC_000003.10:g.117663655G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000474851.1:c.179-17163C>T	ENSP00000418506.1:n.179-17163C>T

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