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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_000003.12:g.48589402T= , CM000665.2:g.48589402T=
GRCh38
NC_000003.11:g.48626835T= , CM000665.1:g.48626835T=
GRCh37
NC_000003.10:g.48601839T=
NCBI36
NG_007065.1:g.10851A= , LRG_286:g.10851A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000681320.1:c.2239A=
MANE Select
ENSP00000506558.1:p.Thr747=
ENST00000328333.12:c.2239A=
ENSP00000332371.8:p.Thr747=
NM_000094.3:c.2239A= , LRG_286t1:c.2239A=
NP_000085.1:p.Thr747=
XM_011533336.1:c.2239A=
XP_011531638.1:p.Thr747=
XM_011533337.1:c.2239A=
XP_011531639.1:p.Thr747=
XM_011533338.1:c.2239A=
XP_011531640.1:p.Thr747=
XM_011533339.1:c.2239A=
XP_011531641.1:p.Thr747=
XM_011533340.1:c.2239A=
XP_011531642.1:p.Thr747=
XM_011533341.1:c.2239A=
XP_011531643.1:p.Thr747=
XM_011533342.1:c.2239A=
XP_011531644.1:p.Thr747=
XR_940369.1:n.2275A=
XR_940370.1:n.2275A=
XR_940371.1:n.2275A=
XR_940372.1:n.2275A=
XR_940373.1:n.2275A=
XR_940374.1:n.2275A=
XR_940375.1:n.2275A=
XM_017005688.1:c.2239A=
XP_016861177.1:p.Thr747=
XM_017005689.1:c.2239A=
XP_016861178.1:p.Thr747=
XM_017005690.1:c.2239A=
XP_016861179.1:p.Thr747=
XM_017005691.1:c.2239A=
XP_016861180.1:p.Thr747=
XM_017005692.1:c.2239A=
XP_016861181.1:p.Thr747=
XR_001740003.1:n.2275A=
XR_001740004.1:n.2275A=
XR_001740005.1:n.2275A=
XR_001740006.1:n.2275A=
XR_001740007.1:n.2275A=
XR_001740008.1:n.2275A=
XR_001740009.1:n.2275A=
NM_000094.4:c.2239A=
MANE Select
NP_000085.1:p.Thr747=