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.

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23196705C>A , CM000678.2:g.23196705C>A	GRCh38
NC_000016.9:g.23208026C>A , CM000678.1:g.23208026C>A	GRCh37
NC_000016.8:g.23115527C>A	NCBI36
NG_011909.1:g.18987C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300061.3:c.914-559C>A MANE Select	ENSP00000300061.2:n.914-559C>A
ENST00000300061.2:c.914-559C>A	ENSP00000300061.2:n.914-559C>A
NM_001039.3:c.914-559C>A	NP_001030.2:n.914-559C>A
NM_001039.4:c.914-559C>A MANE Select	NP_001030.2:n.914-559C>A