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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.203300388G= , CM000664.2:g.203300388G=
GRCh38
NC_000002.11:g.204165111G= , CM000664.1:g.204165111G=
GRCh37
NC_000002.10:g.203873356G=
NCBI36
NG_007956.1:g.66948G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000356079.9:c.*3480G=
MANE Select
ENSP00000348380.4:n.*3480G=
ENST00000611416.4:c.*3480G=
ENSP00000477866.1:n.*3480G=
ENST00000613925.4:c.*380+3100G=
ENSP00000482757.1:n.*380+3100G=
NM_177538.2:c.*3480G=
NP_803882.1:n.*3480G=
NM_001371695.1:c.*3480G=
NP_001358624.1:n.*3480G=
NM_001371696.1:c.*3480G=
NP_001358625.1:n.*3480G=
NM_001371697.1:c.*3480G=
NP_001358626.1:n.*3480G=
NM_001371698.1:c.*3480G=
NP_001358627.1:n.*3480G=
NM_001371699.1:c.*3480G=
NP_001358628.1:n.*3480G=
NM_001371700.1:c.*3480G=
NP_001358629.1:n.*3480G=
NM_001371701.1:c.*3480G=
NP_001358630.1:n.*3480G=
NM_001371702.1:c.*3480G=
NP_001358631.1:n.*3480G=
NM_001371703.1:c.*3480G=
NP_001358632.1:n.*3480G=
NM_001371704.1:c.*3480G=
NP_001358633.1:n.*3480G=
NM_001371705.1:c.*3480G=
NP_001358634.1:n.*3480G=
NM_001371706.1:c.*3480G=
NP_001358635.1:n.*3480G=
NM_177538.3:c.*3480G=
MANE Select
NP_803882.1:n.*3480G=
NR_163981.1:n.4793G=
NR_163982.1:n.4714G=
NR_163983.1:n.4497G=
NR_163984.1:n.4556G=
NR_163985.1:n.4802G=