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_000023.11:g.133754153G>A , CM000685.2:g.133754153G>A	GRCh38
NC_000023.10:g.132888180G>A , CM000685.1:g.132888180G>A	GRCh37
NC_000023.9:g.132715846G>A	NCBI36
NG_009286.1:g.236487C>T , LRG_505:g.236487C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684880.1:c.432C>T	ENSP00000510280.1:p.Ala144=
ENST00000689310.1:c.313C>T	ENSP00000510438.1:p.His105Tyr
ENST00000692630.1:n.491C>T
ENST00000370818.8:c.361C>T MANE Select	ENSP00000359854.3:p.His121Tyr
ENST00000394299.7:c.361C>T	ENSP00000377836.2:p.His121Tyr
ENST00000370818.7:c.361C>T	ENSP00000359854.3:p.His121Tyr
ENST00000394299.6:c.361C>T	ENSP00000377836.2:p.His121Tyr
ENST00000631057.2:c.199C>T	ENSP00000486325.1:p.His67Tyr
NM_001164617.1:c.361C>T	NP_001158089.1:p.His121Tyr
NM_001164618.1:c.313C>T	NP_001158090.1:p.His105Tyr
NM_001164619.1:c.199C>T	NP_001158091.1:p.His67Tyr
NM_004484.3:c.361C>T , LRG_505t1:c.361C>T	NP_004475.1:p.His121Tyr
XM_017029413.2:c.361C>T	XP_016884902.1:p.His121Tyr
NM_001164617.2:c.361C>T	NP_001158089.1:p.His121Tyr
NM_001164618.2:c.313C>T	NP_001158090.1:p.His105Tyr
NM_001164619.2:c.199C>T	NP_001158091.1:p.His67Tyr
NM_004484.4:c.361C>T MANE Select	NP_004475.1:p.His121Tyr

Linked Data

Genomic Alleles

Transcript Alleles