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_000003.12:g.147413284G>A , CM000665.2:g.147413284G>A	GRCh38
NC_000003.11:g.147131071G>A , CM000665.1:g.147131071G>A	GRCh37
NC_000003.10:g.148613761G>A	NCBI36
NG_015886.1:g.8891G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282928.5:c.1147-70G>A MANE Select	ENSP00000282928.4:n.1147-70G>A
ENST00000282928.4:c.1147-70G>A	ENSP00000282928.4:n.1147-70G>A
ENST00000472523.1:n.521+19342G>A
ENST00000488404.5:c.213-70G>A
NM_003412.3:c.1147-70G>A	NP_003403.2:n.1147-70G>A
NM_003412.4:c.1147-70G>A MANE Select	NP_003403.2:n.1147-70G>A