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_000006.12:g.6145371G>T , CM000668.2:g.6145371G>T	GRCh38
NC_000006.11:g.6145604G>T , CM000668.1:g.6145604G>T	GRCh37
NC_000006.10:g.6090603G>T	NCBI36
NG_008107.1:g.180321C>A , LRG_549:g.180321C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.*248C>A MANE Select	ENSP00000264870.3:n.*248C>A
ENST00000264870.7:c.*248C>A	ENSP00000264870.3:n.*248C>A
NM_000129.3:c.248C>A , LRG_549t1:c.248C>A	NP_000120.2:n.*248C>A
XM_006715010.2:c.*248C>A	XP_006715073.1:n.*248C>A
XM_011514342.1:c.*248C>A	XP_011512644.1:n.*248C>A
NM_000129.4:c.*248C>A MANE Select	NP_000120.2:n.*248C>A