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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_000006.12:g.73621806C= , CM000668.2:g.73621806C=
GRCh38
NC_000006.11:g.74331529C= , CM000668.1:g.74331529C=
GRCh37
NC_000006.10:g.74388250C=
NCBI36
NG_008272.1:g.37209G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000355773.6:c.976G=
MANE Select
ENSP00000348019.5:p.Glu326=
ENST00000355773.5:c.976G=
ENSP00000348019.5:p.Glu326=
NM_012434.4:c.976G=
NP_036566.1:p.Glu326=
XM_005248710.2:c.925G=
XP_005248767.1:p.Glu309=
XM_005248711.1:c.778G=
XP_005248768.1:p.Glu260=
XM_011535750.1:c.976G=
XP_011534052.1:p.Glu326=
NM_012434.5:c.976G=
MANE Select
NP_036566.1:p.Glu326=
NM_001382629.1:c.745G=
NP_001369558.1:p.Glu249=
NM_001382630.1:c.976G=
NP_001369559.1:p.Glu326=
NM_001382631.1:c.997G=
NP_001369560.1:p.Glu333=
NM_001382632.1:c.889G=
NP_001369561.1:p.Glu297=
NM_001382633.1:c.976G=
NP_001369562.1:p.Glu326=
NM_001382634.1:c.820-6359G=
NP_001369563.1:n.820-6359G=
NM_001382635.1:c.973G=
NP_001369564.1:p.Glu325=
NM_001382636.1:c.658G=
NP_001369565.1:p.Glu220=