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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.72375980T= , CM000677.2:g.72375980T=
GRCh38
NC_000015.9:g.72668321T= , CM000677.1:g.72668321T=
GRCh37
NC_000015.8:g.70455375T=
NCBI36
NG_009017.1:g.5200A=
NG_009017.2:g.5200A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000563908.2:n.6A=
ENST00000567027.6:c.-8A=
ENSP00000457521.2:n.-8A=
ENST00000682061.1:c.-8A=
ENSP00000508316.1:n.-8A=
ENST00000682653.1:n.24A=
ENST00000682657.1:c.-8A=
ENSP00000507753.1:n.-8A=
ENST00000682721.1:c.-8A=
ENSP00000507535.1:n.-8A=
ENST00000683003.1:c.-8A=
ENSP00000507576.1:n.-8A=
ENST00000683228.1:n.24A=
ENST00000683243.1:c.-8A=
ENSP00000507042.1:n.-8A=
ENST00000683463.1:c.-8A=
ENSP00000507986.1:n.-8A=
ENST00000683548.1:n.24A=
ENST00000683579.1:c.-8A=
ENSP00000506867.1:n.-8A=
ENST00000683587.1:n.24A=
ENST00000683681.1:c.-8A=
ENSP00000508110.1:n.-8A=
ENST00000683735.1:c.-8A=
ENSP00000508336.1:n.-8A=
ENST00000683853.1:c.-8A=
ENSP00000506834.1:n.-8A=
ENST00000683860.1:c.-8A=
ENSP00000507179.1:n.-8A=
ENST00000683884.1:c.-8A=
ENSP00000507004.1:n.-8A=
ENST00000684041.1:c.-8A=
ENSP00000508382.1:n.-8A=
ENST00000684125.1:c.-8A=
ENSP00000507320.1:n.-8A=
ENST00000684203.1:n.10A=
ENST00000684231.1:c.-8A=
ENSP00000507748.1:n.-8A=
ENST00000684263.1:c.-8A=
ENSP00000508369.1:n.-8A=
ENST00000684415.1:c.-8A=
ENSP00000507227.1:n.-8A=
ENST00000684520.1:c.-8A=
ENSP00000506826.1:n.-8A=
ENST00000684602.1:c.-8A=
ENSP00000507996.1:n.-8A=
ENST00000268097.10:c.-8A=
MANE Select
ENSP00000268097.6:n.-8A=
ENST00000268097.9:c.-8A=
ENSP00000268097.5:n.-8A=
ENST00000379915.4:c.-8A=
ENSP00000478716.1:n.-8A=
ENST00000566304.5:c.-8A=
ENSP00000455114.1:n.-8A=
ENST00000566672.5:c.-8A=
ENSP00000457037.1:n.-8A=
ENST00000567159.5:c.-8A=
ENSP00000456489.1:n.-8A=
ENST00000567213.2:c.-8A=
ENSP00000478217.1:n.-8A=
ENST00000567411.5:c.-8A=
ENSP00000455545.1:n.-8A=
ENST00000569509.5:n.147-149A=
NM_000520.4:c.-8A=
NP_000511.2:n.-8A=
NM_000520.5:c.-8A=
NP_000511.2:n.-8A=
NM_001318825.1:c.-8A=
NP_001305754.1:n.-8A=
NR_134869.1:n.494A=
NM_000520.6:c.-8A=
MANE Select
NP_000511.2:n.-8A=
NM_001318825.2:c.-8A=
NP_001305754.1:n.-8A=
NR_134869.2:n.35A=
NR_134869.3:n.35A=