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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_000020.11:g.46724958T= , CM000682.2:g.46724958T=
GRCh38
NC_000020.10:g.45353597T= , CM000682.1:g.45353597T=
GRCh37
NC_000020.9:g.44787004T=
NCBI36
NG_016284.1:g.20319T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.5-83T=
MANE Select
ENSP00000352216.2:n.5-83T=
ENST00000359271.3:c.5-83T=
ENSP00000352216.2:n.5-83T=
ENST00000611837.1:n.157-83T=
NM_030777.3:c.5-83T=
NP_110404.1:n.5-83T=
XM_011529060.1:c.68-83T=
XP_011527362.1:n.68-83T=
XM_011529061.1:c.14-83T=
XP_011527363.1:n.14-83T=
XM_011529062.1:c.68-83T=
XP_011527364.1:n.68-83T=
XM_011529063.1:c.68-83T=
XP_011527365.1:n.68-83T=
XM_011529064.1:c.68-83T=
XP_011527366.1:n.68-83T=
XM_011529065.1:c.68-83T=
XP_011527367.1:n.68-83T=
XR_936641.1:n.204-83T=
XM_011529060.2:c.68-83T=
XP_011527362.1:n.68-83T=
XM_011529061.2:c.14-83T=
XP_011527363.1:n.14-83T=
XM_011529062.2:c.68-83T=
XP_011527364.1:n.68-83T=
XM_011529063.2:c.68-83T=
XP_011527365.1:n.68-83T=
XM_011529064.2:c.68-83T=
XP_011527366.1:n.68-83T=
XM_011529065.2:c.68-83T=
XP_011527367.1:n.68-83T=
XM_017028087.2:c.5-83T=
XP_016883576.1:n.5-83T=
XR_936641.2:n.191-83T=
NM_030777.4:c.5-83T=
MANE Select
NP_110404.1:n.5-83T=