×
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_000023.11:g.71224564A= , CM000685.2:g.71224564A=
GRCh38
NC_000023.10:g.70444414A= , CM000685.1:g.70444414A=
GRCh37
NC_000023.9:g.70361139A=
NCBI36
NG_008357.1:g.14353A= , LRG_245:g.14353A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361726.7:c.*5A=
MANE Select
ENSP00000354900.6:n.*5A=
ENST00000374029.2:c.*5A=
ENSP00000363141.1:n.*5A=
ENST00000447581.2:c.*5A=
ENSP00000407223.2:n.*5A=
ENST00000645009.2:c.*5A=
ENSP00000494142.2:n.*5A=
ENST00000646835.1:c.*5A=
ENSP00000494596.1:n.*5A=
ENST00000647424.1:c.*5A=
ENSP00000495960.1:n.*5A=
ENST00000674549.1:c.*5A=
ENSP00000502766.1:n.*5A=
ENST00000674844.1:c.*5A=
ENSP00000502556.1:n.*5A=
ENST00000675209.1:c.*5A=
ENSP00000501813.1:n.*5A=
ENST00000675368.1:c.*5A=
ENSP00000501757.1:n.*5A=
ENST00000675609.1:c.*5A=
ENSP00000501571.1:n.*5A=
ENST00000361726.6:c.*5A=
ENSP00000354900.6:n.*5A=
ENST00000374022.3:c.*5A=
ENSP00000363134.3:n.*5A=
ENST00000374029.1:c.*5A=
ENSP00000363141.1:n.*5A=
NM_000166.5:c.*5A=
NP_000157.1:n.*5A=
NM_001097642.2:c.*5A= , LRG_245t1:c.*5A=
NP_001091111.1:n.*5A=
XM_011530907.1:c.*5A=
XP_011529209.1:n.*5A=
XM_011530907.2:c.*5A=
XP_011529209.1:n.*5A=
NM_000166.6:c.*5A=
MANE Select
NP_000157.1:n.*5A=
NM_001097642.3:c.*5A=
NP_001091111.1:n.*5A=