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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.53123728G>A , CM000665.2:g.53123728G>A
GRCh38
NC_000003.11:g.53157744G>A , CM000665.1:g.53157744G>A
GRCh37
NC_000003.10:g.53132784G>A
NCBI36
NG_009203.1:g.11727C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000296292.8:c.262C>T
MANE Select
ENSP00000296292.3:p.Leu88=
ENST00000296292.7:c.262C>T
ENSP00000296292.3:p.Leu88=
ENST00000394738.7:c.150-1165C>T
ENSP00000378223.3:n.150-1165C>T
ENST00000467048.1:c.262C>T
ENSP00000420325.1:p.Leu88=
NM_052859.3:c.262C>T
NP_443091.1:p.Leu88=
XM_005265537.3:c.262C>T
XP_005265594.1:p.Leu88=
XM_006713384.2:c.262C>T
XP_006713447.1:p.Leu88=
XM_011534214.1:c.262C>T
XP_011532516.1:p.Leu88=
XM_011534215.1:c.262C>T
XP_011532517.1:p.Leu88=
XR_940507.1:n.321C>T
XM_005265537.4:c.262C>T
XP_005265594.1:p.Leu88=
XM_006713384.3:c.262C>T
XP_006713447.1:p.Leu88=
XM_011534214.2:c.262C>T
XP_011532516.1:p.Leu88=
XM_011534215.3:c.262C>T
XP_011532517.1:p.Leu88=
XM_011534216.3:c.-579C>T
XP_011532518.1:n.-579C>T
XM_017007460.1:c.262C>T
XP_016862949.1:p.Leu88=
XM_017007461.2:c.-579C>T
XP_016862950.1:n.-579C>T
XR_001740360.2:n.328C>T
NM_052859.4:c.262C>T
MANE Select
NP_443091.1:p.Leu88=