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_000004.12:g.119320574C>T , CM000666.2:g.119320574C>T	GRCh38
NC_000004.11:g.120241729C>T , CM000666.1:g.120241729C>T	GRCh37
NC_000004.10:g.120461177C>T	NCBI36
NG_011444.1:g.6588G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274024.4:c.240+96G>A MANE Select	ENSP00000274024.3:n.240+96G>A
ENST00000274024.3:c.240+96G>A	ENSP00000274024.3:n.240+96G>A
NM_000134.3:c.240+96G>A	NP_000125.2:n.240+96G>A
NM_000134.4:c.240+96G>A MANE Select	NP_000125.2:n.240+96G>A