Canonical Allele Identifier: CA2739741852
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290822A>T , CM000683.2:g.44290822A>T GRCh38
NC_000021.8:g.45710705A>T , CM000683.1:g.45710705A>T GRCh37
NC_000021.7:g.44535133A>T NCBI36
NG_009556.1:g.9943A>T , LRG_18:g.9943A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-273A>T MANE Select ENSP00000291582.5:n.880-273A>T
ENST00000291582.5:c.880-273A>T ENSP00000291582.5:n.880-273A>T
ENST00000337909.5:n.68A>T
ENST00000397994.8:n.68A>T
ENST00000527919.5:n.1613-276A>T
ENST00000530812.5:n.2630-276A>T
NM_000383.3:c.880-273A>T NP_000374.1:n.880-273A>T
XM_011529551.1:c.880-276A>T XP_011527853.1:n.880-276A>T
NM_000383.4:c.880-273A>T MANE Select NP_000374.1:n.880-273A>T