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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_000016.10:g.3792044T= , CM000678.2:g.3792044T=
GRCh38
NC_000016.9:g.3842045T= , CM000678.1:g.3842045T=
GRCh37
NC_000016.8:g.3782046T=
NCBI36
NG_009873.1:g.93077A=
NG_009873.2:g.93670A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000262367.10:c.1267A=
MANE Select
ENSP00000262367.5:p.Thr423=
ENST00000262367.9:c.1267A=
ENSP00000262367.5:p.Thr423=
ENST00000382070.7:c.1216+1342A=
ENSP00000371502.3:n.1216+1342A=
NM_001079846.1:c.1216+1342A=
NP_001073315.1:n.1216+1342A=
NM_004380.2:c.1267A=
NP_004371.2:p.Thr423=
XM_005255124.3:c.1267A=
XP_005255181.1:p.Thr423=
XM_005255125.3:c.1267A=
XP_005255182.1:p.Thr423=
XM_006720848.2:c.1267A=
XP_006720911.1:p.Thr423=
XM_011522380.1:c.1213A=
XP_011520682.1:p.Thr405=
XM_011522381.1:c.514A=
XP_011520683.1:p.Thr172=
XM_011522382.1:c.1267A=
XP_011520684.1:p.Thr423=
XM_005255124.4:c.1267A=
XP_005255181.1:p.Thr423=
XM_005255125.4:c.1267A=
XP_005255182.1:p.Thr423=
XM_006720848.3:c.1267A=
XP_006720911.1:p.Thr423=
XM_011522381.2:c.514A=
XP_011520683.1:p.Thr172=
XM_011522382.3:c.1267A=
XP_011520684.1:p.Thr423=
XM_017022944.1:c.1267A=
XP_016878433.1:p.Thr423=
NM_004380.3:c.1267A=
MANE Select
NP_004371.2:p.Thr423=