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: CA200280671

Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs150524098

gnomAD v3: 9-127800412-A-C

gnomAD v4: 9-127800412-A-C

MyVariant Identifiers: chr9:g.130562691A>C (hg19) chr9:g.127800412A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800412A>C , CM000671.2:g.127800412A>C	GRCh38
NC_000009.11:g.130562691A>C , CM000671.1:g.130562691A>C	GRCh37
NC_000009.10:g.129602512A>C	NCBI36
NG_023245.1:g.2538A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000479147.6:n.217-3873A>C
ENST00000479375.6:n.132-3873A>C

Search 100 bp 5'

Search 100 bp 3'