Canonical Allele Identifier: CA410426056
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296383G>C , CM000683.2:g.44296383G>C GRCh38
NC_000021.8:g.45716266G>C , CM000683.1:g.45716266G>C GRCh37
NC_000021.7:g.44540694G>C NCBI36
NG_009556.1:g.15504G>C , LRG_18:g.15504G>C
NG_034033.1:g.1350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1504G>C MANE Select ENSP00000291582.5:p.Asp502His
ENST00000291582.5:c.1504G>C ENSP00000291582.5:p.Asp502His
ENST00000337909.5:n.965G>C
ENST00000397994.8:n.883G>C
ENST00000527919.5:n.2263G>C
ENST00000530812.5:n.3251G>C
NM_000383.3:c.1504G>C NP_000374.1:p.Asp502His
XM_011529551.1:c.1501G>C XP_011527853.1:p.Asp501His
NM_000383.4:c.1504G>C MANE Select NP_000374.1:p.Asp502His