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_000013.11:g.113118831T>G , CM000675.2:g.113118831T>G	GRCh38
NC_000013.10:g.113773145T>G , CM000675.1:g.113773145T>G	GRCh37
NC_000013.9:g.112821146T>G	NCBI36
NG_009258.1:g.1033T>G , LRG_548:g.1033T>G
NG_009262.1:g.18041T>G , LRG_554:g.18041T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.1158T>G MANE Select	ENSP00000329546.4:p.His386Gln
ENST00000346342.7:c.1158T>G	ENSP00000329546.3:p.His386Gln
ENST00000375581.3:c.1224T>G	ENSP00000364731.3:p.His408Gln
ENST00000541084.5:c.972T>G	ENSP00000442051.2:p.His324Gln
NM_000131.4:c.1224T>G , LRG_554t1:c.1224T>G	NP_000122.1:p.His408Gln
NM_001267554.1:c.972T>G	NP_001254483.1:p.His324Gln
NM_019616.3:c.1158T>G , LRG_554t2:c.1158T>G	NP_062562.1:p.His386Gln
NR_051961.1:n.1245T>G
XM_006719963.2:c.1017T>G	XP_006720026.1:p.His339Gln
XM_011537474.1:c.1266T>G	XP_011535776.1:p.His422Gln
XM_011537475.1:c.1080T>G	XP_011535777.1:p.His360Gln
XM_011537476.1:c.918T>G	XP_011535778.1:p.His306Gln
XM_011537477.1:c.1227T>G	XP_011535779.1:p.His409Gln
XM_006719963.3:c.1062T>G	XP_006720026.2:p.His354Gln
XM_011537474.2:c.1311T>G	XP_011535776.2:p.His437Gln
XM_011537475.2:c.1125T>G	XP_011535777.2:p.His375Gln
XM_011537476.2:c.918T>G	XP_011535778.1:p.His306Gln
NM_019616.4:c.1158T>G MANE Select	NP_062562.1:p.His386Gln
NR_051961.2:n.1242T>G
NM_001267554.2:c.972T>G	NP_001254483.1:p.His324Gln

Linked Data

Genomic Alleles

Transcript Alleles