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.55087316G>T , CM000666.2:g.55087316G>T	GRCh38
NC_000004.11:g.55953483G>T , CM000666.1:g.55953483G>T	GRCh37
NC_000004.10:g.55648240G>T	NCBI36
NG_012004.1:g.43280C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263923.5:c.3662+291C>A MANE Select	ENSP00000263923.4:n.3662+291C>A
ENST00000647068.1:n.3675+291C>A
ENST00000263923.4:c.3662+291C>A	ENSP00000263923.4:n.3662+291C>A
NM_002253.2:c.3662+291C>A	NP_002244.1:n.3662+291C>A
NM_002253.3:c.3662+291C>A	NP_002244.1:n.3662+291C>A
NM_002253.4:c.3662+291C>A MANE Select	NP_002244.1:n.3662+291C>A