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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.218395030G= , CM000664.2:g.218395030G=
GRCh38
NC_000002.11:g.219259753G= , CM000664.1:g.219259753G=
GRCh37
NC_000002.10:g.218967997G=
NCBI36
NG_012128.1:g.18002G=
NG_030418.1:g.1693G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000233202.11:c.1648G=
MANE Select
ENSP00000233202.6:p.Gly550=
ENST00000233202.10:c.1648G=
ENSP00000233202.6:p.Gly550=
ENST00000354352.9:c.*1230G=
ENSP00000346320.5:n.*1230G=
ENST00000465984.5:n.2124G=
ENST00000468221.5:n.4775G=
NM_000578.3:c.1648G=
NP_000569.3:p.Gly550=
XM_005246793.2:c.1447G=
XP_005246850.1:p.Gly483=
XM_005246794.2:c.1294G=
XP_005246851.1:p.Gly432=
XM_006712709.2:c.1294G=
XP_006712772.1:p.Gly432=
XM_006712710.2:c.1294G=
XP_006712773.1:p.Gly432=
XM_006712711.2:c.1201G=
XP_006712774.1:p.Gly401=
XM_011511684.1:c.1321G=
XP_011509986.1:p.Gly441=
XM_011511685.1:c.1321G=
XP_011509987.1:p.Gly441=
XM_005246793.4:c.1447G=
XP_005246850.1:p.Gly483=
XM_005246794.4:c.1294G=
XP_005246851.1:p.Gly432=
XM_006712709.4:c.1294G=
XP_006712772.1:p.Gly432=
XM_006712710.4:c.1294G=
XP_006712773.1:p.Gly432=
XM_006712711.4:c.1201G=
XP_006712774.1:p.Gly401=
XM_011511684.3:c.1321G=
XP_011509986.1:p.Gly441=
XM_011511685.3:c.1321G=
XP_011509987.1:p.Gly441=
XM_017004765.2:c.1525G=
XP_016860254.1:p.Gly509=
XM_017004766.2:c.1447G=
XP_016860255.1:p.Gly483=
XM_017004767.2:c.1279G=
XP_016860256.1:p.Gly427=
XR_427107.3:n.2663G=
XR_427108.4:n.2974G=
NM_000578.4:c.1648G=
MANE Select
NP_000569.3:p.Gly550=