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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.218395025C= , CM000664.2:g.218395025C=
GRCh38
NC_000002.11:g.219259748C= , CM000664.1:g.219259748C=
GRCh37
NC_000002.10:g.218967992C=
NCBI36
NG_012128.1:g.17997C=
NG_030418.1:g.1688C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000233202.11:c.1643C=
MANE Select
ENSP00000233202.6:p.Thr548=
ENST00000233202.10:c.1643C=
ENSP00000233202.6:p.Thr548=
ENST00000354352.9:c.*1225C=
ENSP00000346320.5:n.*1225C=
ENST00000465984.5:n.2119C=
ENST00000468221.5:n.4770C=
NM_000578.3:c.1643C=
NP_000569.3:p.Thr548=
XM_005246793.2:c.1442C=
XP_005246850.1:p.Thr481=
XM_005246794.2:c.1289C=
XP_005246851.1:p.Thr430=
XM_006712709.2:c.1289C=
XP_006712772.1:p.Thr430=
XM_006712710.2:c.1289C=
XP_006712773.1:p.Thr430=
XM_006712711.2:c.1196C=
XP_006712774.1:p.Thr399=
XM_011511684.1:c.1316C=
XP_011509986.1:p.Thr439=
XM_011511685.1:c.1316C=
XP_011509987.1:p.Thr439=
XM_005246793.4:c.1442C=
XP_005246850.1:p.Thr481=
XM_005246794.4:c.1289C=
XP_005246851.1:p.Thr430=
XM_006712709.4:c.1289C=
XP_006712772.1:p.Thr430=
XM_006712710.4:c.1289C=
XP_006712773.1:p.Thr430=
XM_006712711.4:c.1196C=
XP_006712774.1:p.Thr399=
XM_011511684.3:c.1316C=
XP_011509986.1:p.Thr439=
XM_011511685.3:c.1316C=
XP_011509987.1:p.Thr439=
XM_017004765.2:c.1520C=
XP_016860254.1:p.Thr507=
XM_017004766.2:c.1442C=
XP_016860255.1:p.Thr481=
XM_017004767.2:c.1274C=
XP_016860256.1:p.Thr425=
XR_427107.3:n.2658C=
XR_427108.4:n.2969C=
NM_000578.4:c.1643C=
MANE Select
NP_000569.3:p.Thr548=