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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_000003.12:g.45979728G= , CM000665.2:g.45979728G=
GRCh38
NC_000003.11:g.46021220G= , CM000665.1:g.46021220G=
GRCh37
NC_000003.10:g.45996224G=
NCBI36
NG_031955.1:g.21097C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000296137.7:c.265C=
MANE Select
ENSP00000296137.2:p.Arg89=
ENST00000296137.6:c.265C=
ENSP00000296137.2:p.Arg89=
ENST00000535325.5:c.265C=
ENSP00000441178.1:p.Arg89=
NM_024513.3:c.265C=
NP_078789.2:p.Arg89=
XM_006713333.2:c.265C=
XP_006713396.1:p.Arg89=
XM_006713334.2:c.265C=
XP_006713397.1:p.Arg89=
XM_011534111.1:c.265C=
XP_011532413.1:p.Arg89=
XM_011534112.1:c.265C=
XP_011532414.1:p.Arg89=
XR_245157.1:n.480C=
XM_006713333.3:c.265C=
XP_006713396.1:p.Arg89=
XM_006713334.3:c.265C=
XP_006713397.1:p.Arg89=
XM_011534111.3:c.265C=
XP_011532413.1:p.Arg89=
XR_001740265.1:n.480C=
NM_024513.4:c.265C=
MANE Select
NP_078789.2:p.Arg89=
NM_001386421.1:c.265C=
NP_001373350.1:p.Arg89=
NM_001386422.1:c.265C=
NP_001373351.1:p.Arg89=
NM_001386423.1:c.265C=
NP_001373352.1:p.Arg89=
NM_001386424.1:c.265C=
NP_001373353.1:p.Arg89=
NM_001386425.1:c.265C=
NP_001373354.1:p.Arg89=
NM_001386426.1:c.145C=
NP_001373355.1:p.Arg49=
NM_001386427.1:c.265C=
NP_001373356.1:p.Arg89=
NM_001386428.1:c.265C=
NP_001373357.1:p.Arg89=
NM_001386429.1:c.265C=
NP_001373358.1:p.Arg89=
NM_001386430.1:c.-62+5128C=
NP_001373359.1:n.-62+5128C=
NR_170107.1:n.480C=