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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.1771054A= , CM000670.2:g.1771054A=
GRCh38
NC_000008.10:g.1719220A= , CM000670.1:g.1719220A=
GRCh37
NC_000008.9:g.1706627A=
NCBI36
NG_008656.2:g.20277A= , LRG_691:g.20277A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000331222.6:c.-1A=
MANE Select
ENSP00000328182.4:n.-1A=
ENST00000519254.2:c.-1A=
ENSP00000490016.1:n.-1A=
ENST00000520991.3:c.-1A=
ENSP00000487905.2:n.-1A=
ENST00000524258.2:c.-1A=
ENSP00000488898.2:n.-1A=
ENST00000635751.1:c.-1A=
ENSP00000489694.1:n.-1A=
ENST00000635855.1:c.-1A=
ENSP00000489726.1:n.-1A=
ENST00000635970.1:c.-1A=
ENSP00000490439.1:n.-1A=
ENST00000636934.1:c.-1A=
ENSP00000490218.1:n.-1A=
ENST00000637083.1:c.-1A=
ENSP00000490235.1:n.-1A=
ENST00000637156.1:c.-1A=
ENSP00000490458.1:n.-1A=
ENST00000637594.1:c.-1A=
ENSP00000489999.1:n.-1A=
ENST00000331222.4:c.-1A=
ENSP00000328182.4:n.-1A=
ENST00000520991.2:c.-1A=
ENSP00000487905.1:n.-1A=
ENST00000524258.1:c.-1A=
ENSP00000488898.1:n.-1A=
NM_018941.3:c.-1A= , LRG_691t1:c.-1A=
NP_061764.2:n.-1A=
XM_005266021.3:c.-1A=
XP_005266078.1:n.-1A=
XM_005266022.1:c.-1A=
XP_005266079.1:n.-1A=
XM_005266023.1:c.-1A=
XP_005266080.1:n.-1A=
XM_011534745.1:c.-1A=
XP_011533047.1:n.-1A=
XM_011534746.1:c.-1A=
XP_011533048.1:n.-1A=
XM_011534747.1:c.-1A=
XP_011533049.1:n.-1A=
XM_005266021.4:c.-1A=
XP_005266078.1:n.-1A=
XM_011534746.2:c.-1A=
XP_011533048.1:n.-1A=
XM_011534747.2:c.-1A=
XP_011533049.1:n.-1A=
NM_018941.4:c.-1A=
MANE Select
NP_061764.2:n.-1A=