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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.53123798C>T , CM000665.2:g.53123798C>T
GRCh38
NC_000003.11:g.53157814C>T , CM000665.1:g.53157814C>T
GRCh37
NC_000003.10:g.53132854C>T
NCBI36
NG_009203.1:g.11657G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000296292.8:c.192G>A
MANE Select
ENSP00000296292.3:p.Glu64=
ENST00000296292.7:c.192G>A
ENSP00000296292.3:p.Glu64=
ENST00000394738.7:c.150-1235G>A
ENSP00000378223.3:n.150-1235G>A
ENST00000467048.1:c.192G>A
ENSP00000420325.1:p.Glu64=
NM_052859.3:c.192G>A
NP_443091.1:p.Glu64=
XM_005265537.3:c.192G>A
XP_005265594.1:p.Glu64=
XM_006713384.2:c.192G>A
XP_006713447.1:p.Glu64=
XM_011534214.1:c.192G>A
XP_011532516.1:p.Glu64=
XM_011534215.1:c.192G>A
XP_011532517.1:p.Glu64=
XR_940507.1:n.251G>A
XM_005265537.4:c.192G>A
XP_005265594.1:p.Glu64=
XM_006713384.3:c.192G>A
XP_006713447.1:p.Glu64=
XM_011534214.2:c.192G>A
XP_011532516.1:p.Glu64=
XM_011534215.3:c.192G>A
XP_011532517.1:p.Glu64=
XM_011534216.3:c.-649G>A
XP_011532518.1:n.-649G>A
XM_017007460.1:c.192G>A
XP_016862949.1:p.Glu64=
XM_017007461.2:c.-649G>A
XP_016862950.1:n.-649G>A
XR_001740360.2:n.258G>A
NM_052859.4:c.192G>A
MANE Select
NP_443091.1:p.Glu64=