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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.218395033T= , CM000664.2:g.218395033T=
GRCh38
NC_000002.11:g.219259756T= , CM000664.1:g.219259756T=
GRCh37
NC_000002.10:g.218968000T=
NCBI36
NG_012128.1:g.18005T=
NG_030418.1:g.1696T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000233202.11:c.1651T=
MANE Select
ENSP00000233202.6:p.Ter551=
ENST00000233202.10:c.1651T=
ENSP00000233202.6:p.Ter551=
ENST00000354352.9:c.*1233T=
ENSP00000346320.5:n.*1233T=
ENST00000465984.5:n.2127T=
ENST00000468221.5:n.4778T=
NM_000578.3:c.1651T=
NP_000569.3:p.Ter551=
XM_005246793.2:c.1450T=
XP_005246850.1:p.Ter484=
XM_005246794.2:c.1297T=
XP_005246851.1:p.Ter433=
XM_006712709.2:c.1297T=
XP_006712772.1:p.Ter433=
XM_006712710.2:c.1297T=
XP_006712773.1:p.Ter433=
XM_006712711.2:c.1204T=
XP_006712774.1:p.Ter402=
XM_011511684.1:c.1324T=
XP_011509986.1:p.Ter442=
XM_011511685.1:c.1324T=
XP_011509987.1:p.Ter442=
XM_005246793.4:c.1450T=
XP_005246850.1:p.Ter484=
XM_005246794.4:c.1297T=
XP_005246851.1:p.Ter433=
XM_006712709.4:c.1297T=
XP_006712772.1:p.Ter433=
XM_006712710.4:c.1297T=
XP_006712773.1:p.Ter433=
XM_006712711.4:c.1204T=
XP_006712774.1:p.Ter402=
XM_011511684.3:c.1324T=
XP_011509986.1:p.Ter442=
XM_011511685.3:c.1324T=
XP_011509987.1:p.Ter442=
XM_017004765.2:c.1528T=
XP_016860254.1:p.Ter510=
XM_017004766.2:c.1450T=
XP_016860255.1:p.Ter484=
XM_017004767.2:c.1282T=
XP_016860256.1:p.Ter428=
XR_427107.3:n.2666T=
XR_427108.4:n.2977T=
NM_000578.4:c.1651T=
MANE Select
NP_000569.3:p.Ter551=