Canonical Allele Identifier: CA219194
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 68218
dbSNP Id: rs179363889

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44297705C>T , CM000683.2:g.44297705C>T GRCh38
NC_000021.8:g.45717588C>T , CM000683.1:g.45717588C>T GRCh37
NC_000021.7:g.44542016C>T NCBI36
NG_009556.1:g.16826C>T , LRG_18:g.16826C>T
NG_034033.1:g.2672C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1616C>T MANE Select ENSP00000291582.5:p.Pro539Leu
ENST00000291582.5:c.1616C>T ENSP00000291582.5:p.Pro539Leu
ENST00000337909.5:n.1077C>T
ENST00000397994.8:n.995C>T
ENST00000527919.5:n.2375C>T
ENST00000530812.5:n.3363C>T
NM_000383.3:c.1616C>T NP_000374.1:p.Pro539Leu
XM_011529551.1:c.1613C>T XP_011527853.1:p.Pro538Leu
NM_000383.4:c.1616C>T MANE Select NP_000374.1:p.Pro539Leu