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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_000008.11:g.85328555A= , CM000670.2:g.85328555A=
GRCh38
NC_000008.10:g.86240784A= , CM000670.1:g.86240784A=
GRCh37
NC_000008.9:g.86428036A=
NCBI36
NG_016221.1:g.54559T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000523022.6:c.*5T=
MANE Select
ENSP00000429798.1:n.*5T=
ENST00000431316.3:c.*5T=
ENSP00000392338.1:n.*5T=
ENST00000521679.5:c.540T=
ENST00000522389.5:c.*5T=
ENSP00000427773.1:n.*5T=
ENST00000523022.5:c.*5T=
ENSP00000429798.1:n.*5T=
ENST00000523953.5:c.*5T=
ENSP00000430656.1:n.*5T=
ENST00000542576.5:c.*5T=
ENSP00000443517.1:n.*5T=
ENST00000626824.1:c.*5T=
ENSP00000486171.1:n.*5T=
NM_001128829.3:c.*5T=
NP_001122301.1:n.*5T=
NM_001128830.3:c.*5T=
NP_001122302.1:n.*5T=
NM_001128831.3:c.*5T=
NP_001122303.1:n.*5T=
NM_001164830.1:c.*5T=
NP_001158302.1:n.*5T=
NM_001291967.1:c.*5T=
NP_001278896.1:n.*5T=
NM_001291968.1:c.*5T=
NP_001278897.1:n.*5T=
NM_001738.4:c.*5T=
NP_001729.1:n.*5T=
XM_011517584.1:c.*5T=
XP_011515886.1:n.*5T=
NM_001128829.4:c.*5T=
NP_001122301.1:n.*5T=
NM_001128830.4:c.*5T=
NP_001122302.1:n.*5T=
NM_001128831.4:c.*5T=
MANE Select
NP_001122303.1:n.*5T=
NM_001164830.2:c.*5T=
NP_001158302.1:n.*5T=
NM_001291967.2:c.*5T=
NP_001278896.1:n.*5T=
NM_001291968.2:c.*5T=
NP_001278897.1:n.*5T=
NM_001738.5:c.*5T=
NP_001729.1:n.*5T=