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_000011.10:g.6319112A>T , CM000673.2:g.6319112A>T	GRCh38
NC_000011.9:g.6340342A>T , CM000673.1:g.6340342A>T	GRCh37
NC_000011.8:g.6296918A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000303927.4:c.*51T>A MANE Select	ENSP00000307292.3:n.*51T>A
ENST00000303927.3:c.*51T>A	ENSP00000307292.3:n.*51T>A
ENST00000532354.1:n.859T>A
NM_145040.2:c.*51T>A	NP_659477.2:n.*51T>A
XR_930997.1:n.720+892A>T
NM_145040.3:c.*51T>A MANE Select	NP_659477.2:n.*51T>A