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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.3792054C= , CM000678.2:g.3792054C=
GRCh38
NC_000016.9:g.3842055C= , CM000678.1:g.3842055C=
GRCh37
NC_000016.8:g.3782056C=
NCBI36
NG_009873.1:g.93067G=
NG_009873.2:g.93660G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000262367.10:c.1257G=
MANE Select
ENSP00000262367.5:p.Trp419=
ENST00000262367.9:c.1257G=
ENSP00000262367.5:p.Trp419=
ENST00000382070.7:c.1216+1332G=
ENSP00000371502.3:n.1216+1332G=
NM_001079846.1:c.1216+1332G=
NP_001073315.1:n.1216+1332G=
NM_004380.2:c.1257G=
NP_004371.2:p.Trp419=
XM_005255124.3:c.1257G=
XP_005255181.1:p.Trp419=
XM_005255125.3:c.1257G=
XP_005255182.1:p.Trp419=
XM_006720848.2:c.1257G=
XP_006720911.1:p.Trp419=
XM_011522380.1:c.1203G=
XP_011520682.1:p.Trp401=
XM_011522381.1:c.504G=
XP_011520683.1:p.Trp168=
XM_011522382.1:c.1257G=
XP_011520684.1:p.Trp419=
XM_005255124.4:c.1257G=
XP_005255181.1:p.Trp419=
XM_005255125.4:c.1257G=
XP_005255182.1:p.Trp419=
XM_006720848.3:c.1257G=
XP_006720911.1:p.Trp419=
XM_011522381.2:c.504G=
XP_011520683.1:p.Trp168=
XM_011522382.3:c.1257G=
XP_011520684.1:p.Trp419=
XM_017022944.1:c.1257G=
XP_016878433.1:p.Trp419=
NM_004380.3:c.1257G=
MANE Select
NP_004371.2:p.Trp419=