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: CA897566035

Gene: LSAMP HGNC NCBI

Linked Data

dbSNP Id: rs1170720296

gnomAD v3: 3-116462206-A-G

gnomAD v4: 3-116462206-A-G

MyVariant Identifiers: chr3:g.116181053A>G (hg19) chr3:g.116462206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.116462206A>G , CM000665.2:g.116462206A>G	GRCh38
NC_000003.11:g.116181053A>G , CM000665.1:g.116181053A>G	GRCh37
NC_000003.10:g.117663743A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000474851.1:c.179-17251T>C	ENSP00000418506.1:n.179-17251T>C

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