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: CA925165160

Gene: FRMD4A HGNC NCBI

Linked Data

dbSNP Id: rs1844557417

gnomAD v3: 10-14436460-T-A

gnomAD v4: 10-14436460-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14436460T>A , CM000672.2:g.14436460T>A	GRCh38
NC_000010.10:g.14478459T>A , CM000672.1:g.14478459T>A	GRCh37
NC_000010.9:g.14518465T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000475141.2:c.-305+25608A>T	ENSP00000473870.1:n.-305+25608A>T
ENST00000493380.5:c.-82+25608A>T	ENSP00000474863.1:n.-82+25608A>T

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