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_000005.10:g.70049629G>A , CM000667.2:g.70049629G>A	GRCh38
NC_000005.9:g.69345456G>A , CM000667.1:g.69345456G>A	GRCh37
NC_000005.8:g.69381212G>A	NCBI36
NG_008728.1:g.5107G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.8:c.-57G>A	ENSP00000370119.4:n.-57G>A
NM_017411.3:c.-57G>A	NP_059107.1:n.-57G>A
NM_022875.2:c.-57G>A	NP_075013.1:n.-57G>A
NM_022876.2:c.-57G>A	NP_075014.1:n.-57G>A
NM_022877.2:c.-57G>A	NP_075015.1:n.-57G>A
XR_948432.1:n.1054+61625G>A
XM_011543602.3:c.-57G>A	XP_011541904.1:n.-57G>A
XM_011543603.3:c.-57G>A	XP_011541905.1:n.-57G>A