Canonical Allele Identifier: CA2391570639
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296482C= , CM000683.2:g.44296482C= GRCh38
NC_000021.8:g.45716365C= , CM000683.1:g.45716365C= GRCh37
NC_000021.7:g.44540793C= NCBI36
NG_009556.1:g.15603C= , LRG_18:g.15603C=
NG_034033.1:g.1449C=

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1566+37C= MANE Select ENSP00000291582.5:n.1566+37C=
ENST00000291582.5:c.1566+37C= ENSP00000291582.5:n.1566+37C=
ENST00000337909.5:n.1027+37C=
ENST00000397994.8:n.945+37C=
ENST00000527919.5:n.2325+37C=
ENST00000530812.5:n.3313+37C=
NM_000383.3:c.1566+37C= NP_000374.1:n.1566+37C=
XM_011529551.1:c.1563+37C= XP_011527853.1:n.1563+37C=
NM_000383.4:c.1566+37C= MANE Select NP_000374.1:n.1566+37C=