×
OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400 The first of two essential broad service outages will occur over the weekend. The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned. Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.80104587A>T , CM000679.2:g.80104587A>T
GRCh38
NC_000017.10:g.78078386A>T , CM000679.1:g.78078386A>T
GRCh37
NC_000017.9:g.75692981A>T
NCBI36
NG_009822.1:g.8032A>T , LRG_673:g.8032A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000570803.6:c.1A>T
ENSP00000460543.2:p.Met1Leu
ENST00000572080.2:c.1A>T
ENSP00000459972.2:p.Met1Leu
ENST00000577106.6:c.1A>T
ENSP00000458306.2:p.Met1Leu
ENST00000302262.8:c.1A>T
MANE Select
ENSP00000305692.3:p.Met1Leu
ENST00000302262.7:c.1A>T
ENSP00000305692.3:p.Met1Leu
ENST00000390015.7:c.1A>T
ENSP00000374665.3:p.Met1Leu
ENST00000570803.5:c.1A>T
ENSP00000460543.1:p.Met1Leu
ENST00000577106.5:c.1A>T
ENSP00000458306.1:p.Met1Leu
NM_000152.3:c.1A>T , LRG_673t1:c.1A>T
NP_000143.2:p.Met1Leu
NM_001079803.1:c.1A>T
NP_001073271.1:p.Met1Leu
NM_001079804.1:c.1A>T
NP_001073272.1:p.Met1Leu
XM_005257193.1:c.1A>T
XP_005257250.1:p.Met1Leu
XM_005257194.3:c.1A>T
XP_005257251.1:p.Met1Leu
NM_000152.4:c.1A>T
NP_000143.2:p.Met1Leu
NM_001079803.2:c.1A>T
NP_001073271.1:p.Met1Leu
NM_001079804.2:c.1A>T
NP_001073272.1:p.Met1Leu
XM_005257193.2:c.1A>T
XP_005257250.1:p.Met1Leu
XM_005257194.4:c.1A>T
XP_005257251.1:p.Met1Leu
NM_000152.5:c.1A>T
MANE Select
NP_000143.2:p.Met1Leu
NM_001079803.3:c.1A>T
NP_001073271.1:p.Met1Leu
NM_001079804.3:c.1A>T
NP_001073272.1:p.Met1Leu