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.1431001G>A , CM000667.2:g.1431001G>A	GRCh38
NC_000005.9:g.1431116G>A , CM000667.1:g.1431116G>A	GRCh37
NC_000005.8:g.1484116G>A	NCBI36
NG_015885.1:g.19428C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.653+1463C>T MANE Select	ENSP00000270349.9:n.653+1463C>T
ENST00000270349.11:c.653+1463C>T	ENSP00000270349.9:n.653+1463C>T
NM_001044.4:c.653+1463C>T	NP_001035.1:n.653+1463C>T
NM_001044.5:c.653+1463C>T MANE Select	NP_001035.1:n.653+1463C>T