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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_000002.12:g.218395023G= , CM000664.2:g.218395023G=
GRCh38
NC_000002.11:g.219259746G= , CM000664.1:g.219259746G=
GRCh37
NC_000002.10:g.218967990G=
NCBI36
NG_012128.1:g.17995G=
NG_030418.1:g.1686G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000233202.11:c.1641G=
MANE Select
ENSP00000233202.6:p.Glu547=
ENST00000233202.10:c.1641G=
ENSP00000233202.6:p.Glu547=
ENST00000354352.9:c.*1223G=
ENSP00000346320.5:n.*1223G=
ENST00000465984.5:n.2117G=
ENST00000468221.5:n.4768G=
NM_000578.3:c.1641G=
NP_000569.3:p.Glu547=
XM_005246793.2:c.1440G=
XP_005246850.1:p.Glu480=
XM_005246794.2:c.1287G=
XP_005246851.1:p.Glu429=
XM_006712709.2:c.1287G=
XP_006712772.1:p.Glu429=
XM_006712710.2:c.1287G=
XP_006712773.1:p.Glu429=
XM_006712711.2:c.1194G=
XP_006712774.1:p.Glu398=
XM_011511684.1:c.1314G=
XP_011509986.1:p.Glu438=
XM_011511685.1:c.1314G=
XP_011509987.1:p.Glu438=
XM_005246793.4:c.1440G=
XP_005246850.1:p.Glu480=
XM_005246794.4:c.1287G=
XP_005246851.1:p.Glu429=
XM_006712709.4:c.1287G=
XP_006712772.1:p.Glu429=
XM_006712710.4:c.1287G=
XP_006712773.1:p.Glu429=
XM_006712711.4:c.1194G=
XP_006712774.1:p.Glu398=
XM_011511684.3:c.1314G=
XP_011509986.1:p.Glu438=
XM_011511685.3:c.1314G=
XP_011509987.1:p.Glu438=
XM_017004765.2:c.1518G=
XP_016860254.1:p.Glu506=
XM_017004766.2:c.1440G=
XP_016860255.1:p.Glu480=
XM_017004767.2:c.1272G=
XP_016860256.1:p.Glu424=
XR_427107.3:n.2656G=
XR_427108.4:n.2967G=
NM_000578.4:c.1641G=
MANE Select
NP_000569.3:p.Glu547=