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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_000011.10:g.86306276A= , CM000673.2:g.86306276A=
GRCh38
NC_000011.9:g.86017318A= , CM000673.1:g.86017318A=
GRCh37
NC_000011.8:g.85694966A=
NCBI36
NG_046865.1:g.9066A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000278483.8:c.62A=
MANE Select
ENSP00000278483.3:p.Asp21=
ENST00000278483.7:c.62A=
ENSP00000278483.3:p.Asp21=
ENST00000528004.5:c.62A=
ENSP00000433815.1:p.Asp21=
ENST00000530208.1:n.137A=
ENST00000531485.5:n.236+3798A=
ENST00000532270.5:n.401A=
ENST00000533986.5:c.62A=
ENSP00000432699.1:p.Asp21=
NM_016401.3:c.62A=
NP_057485.2:p.Asp21=
NR_024596.1:n.137A=
NR_024597.1:n.268+3798A=
NR_024598.1:n.268+3798A=
XM_011545097.1:c.-56A=
XP_011543399.1:n.-56A=
XR_949963.1:n.285A=
NM_001322404.1:c.62A=
NP_001309333.1:p.Asp21=
NM_001322407.1:c.-56A=
NP_001309336.1:n.-56A=
NM_001322409.1:c.-56A=
NP_001309338.1:n.-56A=
NR_136324.1:n.284A=
XM_017017914.2:c.62A=
XP_016873403.1:p.Asp21=
XM_017017915.1:c.-56A=
XP_016873404.1:n.-56A=
XR_001747904.2:n.271A=
XR_949963.3:n.271A=
NM_016401.4:c.62A=
MANE Select
NP_057485.2:p.Asp21=
NM_001322404.2:c.62A=
NP_001309333.1:p.Asp21=
NM_001322407.2:c.-56A=
NP_001309336.1:n.-56A=
NM_001322409.2:c.-56A=
NP_001309338.1:n.-56A=
NR_024597.2:n.239+3798A=
NR_024598.2:n.239+3798A=
NR_136324.2:n.271A=