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_000017.11:g.70177093G>A , CM000679.2:g.70177093G>A	GRCh38
NC_000017.10:g.68173234G>A , CM000679.1:g.68173234G>A	GRCh37
NC_000017.9:g.65684829G>A	NCBI36
NG_008798.1:g.12559G>A , LRG_328:g.12559G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000243457.4:c.*770G>A MANE Select	ENSP00000243457.2:n.*770G>A
ENST00000243457.3:c.*770G>A	ENSP00000243457.2:n.*770G>A
NM_000891.2:c.770G>A , LRG_328t1:c.770G>A	NP_000882.1:n.*770G>A
XM_011524779.1:c.*770G>A	XP_011523081.1:n.*770G>A
NM_000891.3:c.*770G>A MANE Select	NP_000882.1:n.*770G>A