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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_000011.10:g.111908762A= , CM000673.2:g.111908762A=
GRCh38
NC_000011.9:g.111779486A= , CM000673.1:g.111779486A=
GRCh37
NC_000011.8:g.111284696A=
NCBI36
NG_009824.2:g.19961T=
NG_033080.1:g.1027A=
NG_009824.3:g.19961T=
NG_033080.2:g.1027A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000526167.5:c.*9T=
ENSP00000434793.1:n.*9T=
ENST00000526180.6:c.*2T=
ENSP00000436051.1:n.*2T=
ENST00000527899.6:c.*2T=
ENSP00000436089.2:n.*2T=
ENST00000528961.6:c.*2T=
ENSP00000435960.1:n.*2T=
ENST00000533280.6:c.*2T=
ENSP00000435046.1:n.*2T=
ENST00000533475.6:c.*2T=
ENSP00000433560.1:n.*2T=
ENST00000533879.2:c.*2T=
ENSP00000435931.2:n.*2T=
ENST00000533971.2:c.*1421T=
ENSP00000434269.1:n.*1421T=
ENST00000616970.5:c.*2T=
ENSP00000483554.1:n.*2T=
ENST00000650687.2:c.*2T=
MANE Select
ENSP00000499082.1:n.*2T=
ENST00000651164.1:c.*2T=
ENSP00000498735.1:n.*2T=
ENST00000651650.1:c.*2T=
ENSP00000498749.1:n.*2T=
ENST00000652223.1:n.3275T=
ENST00000652606.1:n.1848T=
ENST00000227251.7:c.*2T=
ENSP00000227251.3:n.*2T=
ENST00000524660.1:c.321T=
ENST00000525823.1:c.*2T=
ENSP00000435411.1:n.*2T=
ENST00000526180.5:c.*2T=
ENSP00000436051.1:n.*2T=
ENST00000527950.5:c.*2T=
ENSP00000437149.1:n.*2T=
ENST00000531198.5:c.*2T=
ENSP00000434247.1:n.*2T=
ENST00000533280.5:c.*2T=
ENSP00000435046.1:n.*2T=
ENST00000533475.5:c.*2T=
ENSP00000433560.1:n.*2T=
ENST00000616970.4:c.*2T=
ENSP00000483554.1:n.*2T=
NM_001289807.1:c.*2T=
NP_001276736.1:n.*2T=
NM_001289808.1:c.*2T=
NP_001276737.1:n.*2T=
NM_001885.2:c.*2T=
NP_001876.1:n.*2T=
XM_011542608.1:c.*2T=
XP_011540910.1:n.*2T=
XM_011542609.1:c.*2T=
XP_011540911.1:n.*2T=
NM_001330379.1:c.*2T=
NP_001317308.1:n.*2T=
NM_001289808.2:c.*2T=
MANE Select
NP_001276737.1:n.*2T=
NM_001368245.1:c.*2T=
NP_001355174.1:n.*2T=
NM_001368246.1:c.*2T=
NP_001355175.1:n.*2T=
NM_001885.3:c.*2T=
NP_001876.1:n.*2T=