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_000012.12:g.102844276A>T , CM000674.2:g.102844276A>T	GRCh38
NC_000012.11:g.103238054A>T , CM000674.1:g.103238054A>T	GRCh37
NC_000012.10:g.101762184A>T	NCBI36
NG_008690.1:g.78327T>A
NG_008690.2:g.119135T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1065+60T>A MANE Select	ENSP00000448059.1:n.1065+60T>A
ENST00000307000.7:c.1050+60T>A	ENSP00000303500.2:n.1050+60T>A
ENST00000549247.6:n.824+60T>A
ENST00000551114.2:n.727+60T>A
ENST00000553106.5:c.1065+60T>A	ENSP00000448059.1:n.1065+60T>A
ENST00000635477.1:c.169+60T>A
ENST00000635528.1:n.580+60T>A
NM_000277.1:c.1065+60T>A	NP_000268.1:n.1065+60T>A
XM_011538422.1:c.1008+60T>A	XP_011536724.1:n.1008+60T>A
NM_000277.2:c.1065+60T>A	NP_000268.1:n.1065+60T>A
NM_001354304.1:c.1065+60T>A	NP_001341233.1:n.1065+60T>A
NM_000277.3:c.1065+60T>A MANE Select	NP_000268.1:n.1065+60T>A
NM_001354304.2:c.1065+60T>A	NP_001341233.1:n.1065+60T>A