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: CA2603448780

Gene: LSAMP HGNC NCBI

Linked Data

dbSNP Id: rs2107909223

gnomAD v3: 3-116462086-T-C

gnomAD v4: 3-116462086-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.116462086T>C , CM000665.2:g.116462086T>C	GRCh38
NC_000003.11:g.116180933T>C , CM000665.1:g.116180933T>C	GRCh37
NC_000003.10:g.117663623T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000474851.1:c.179-17131A>G	ENSP00000418506.1:n.179-17131A>G

Search 100 bp 5'

Search 100 bp 3'