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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_000010.11:g.79557274A= , CM000672.2:g.79557274A=
GRCh38
NC_000010.10:g.81317030A= , CM000672.1:g.81317030A=
GRCh37
NG_013046.1:g.8134T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000372325.7:c.682T=
MANE Select
ENSP00000361400.2:p.Tyr228=
ENST00000372325.6:c.682T=
ENSP00000361400.2:p.Tyr228=
ENST00000372327.9:c.682T=
ENSP00000361402.5:p.Tyr228=
NM_001098668.2:c.682T=
NP_001092138.1:p.Tyr228=
XM_005270128.2:c.733T=
XP_005270185.1:p.Tyr245=
XM_005270131.3:c.682T=
XP_005270188.1:p.Tyr228=
XM_005270132.3:c.682T=
XP_005270189.1:p.Tyr228=
XM_011540124.1:c.682T=
XP_011538426.1:p.Tyr228=
XM_011540125.1:c.682T=
XP_011538427.1:p.Tyr228=
NM_001098668.3:c.682T=
NP_001092138.1:p.Tyr228=
NM_001320813.1:c.682T=
NP_001307742.1:p.Tyr228=
NM_001320814.1:c.712T=
NP_001307743.1:p.Tyr238=
XM_005270128.3:c.733T=
XP_005270185.1:p.Tyr245=
XM_017016608.1:c.682T=
XP_016872097.1:p.Tyr228=
NM_001098668.4:c.682T=
MANE Select
NP_001092138.1:p.Tyr228=
NM_001320813.2:c.682T=
NP_001307742.1:p.Tyr228=