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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_000012.12:g.55954206G= , CM000674.2:g.55954206G=
GRCh38
NC_000012.11:g.56347990G= , CM000674.1:g.56347990G=
GRCh37
NC_000012.10:g.54634257G=
NCBI36
NG_028086.1:g.17507C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000548747.6:c.*8C=
MANE Select
ENSP00000448828.1:n.*8C=
ENST00000449260.6:c.*8C=
ENSP00000402758.2:n.*8C=
ENST00000548493.5:c.*8C=
ENSP00000447374.1:n.*8C=
ENST00000548747.5:c.*8C=
ENSP00000448828.1:n.*8C=
ENST00000550447.5:c.*8C=
ENSP00000448029.1:n.*8C=
ENST00000550464.5:c.*8C=
ENSP00000450036.1:n.*8C=
ENST00000552882.5:c.*8C=
ENSP00000449690.1:n.*8C=
NM_001200053.1:c.*8C=
NP_001186982.1:n.*8C=
NM_001200054.1:c.*8C=
NP_001186983.1:n.*8C=
NM_006928.4:c.*8C=
NP_008859.1:n.*8C=
XM_006719569.1:c.*8C=
XP_006719632.1:n.*8C=
XM_011538685.1:c.*8C=
XP_011536987.1:n.*8C=
XM_011538686.1:c.*8C=
XP_011536988.1:n.*8C=
XM_011538687.1:c.*8C=
XP_011536989.1:n.*8C=
NM_001320121.1:c.*8C=
NP_001307050.1:n.*8C=
NM_001320122.1:c.*8C=
NP_001307051.1:n.*8C=
NM_001384361.1:c.*8C=
MANE Select
NP_001371290.1:n.*8C=
NM_006928.5:c.*8C=
NP_008859.1:n.*8C=