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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_000017.11:g.61456574C= , CM000679.2:g.61456574C=
GRCh38
NC_000017.10:g.59533935C= , CM000679.1:g.59533935C=
GRCh37
NC_000017.9:g.56888717C=
NCBI36
NG_008080.1:g.5129C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000642491.1:c.84C=
ENSP00000495714.1:p.Asn28=
ENST00000644296.1:c.84C=
MANE Select
ENSP00000495986.1:p.Asn28=
ENST00000240335.1:c.84C=
ENSP00000240335.1:p.Asn28=
ENST00000393853.8:c.84C=
ENSP00000377435.3:p.Asn28=
ENST00000589003.5:c.-125-50C=
ENSP00000467588.1:n.-125-50C=
NM_018488.2:c.84C=
NP_060958.2:p.Asn28=
XM_005257835.3:c.84C=
XP_005257892.2:p.Asn28=
XM_005257837.2:c.84C=
XP_005257894.1:p.Asn28=
XM_011525490.1:c.273C=
XP_011523792.1:p.Asn91=
XM_011525491.1:c.273C=
XP_011523793.1:p.Asn91=
XM_011525492.1:c.84C=
XP_011523794.1:p.Asn28=
XM_011525493.1:c.84C=
XP_011523795.1:p.Asn28=
XM_011525494.1:c.84C=
XP_011523796.1:p.Asn28=
XM_011525495.1:c.273C=
XP_011523797.1:p.Asn91=
NM_001321120.2:c.84C=
MANE Select
NP_001308049.1:p.Asn28=
NM_018488.3:c.84C=
NP_060958.2:p.Asn28=
XM_011525490.2:c.273C=
XP_011523792.1:p.Asn91=
XM_011525491.2:c.273C=
XP_011523793.1:p.Asn91=
XM_011525495.2:c.273C=
XP_011523797.1:p.Asn91=