Canonical Allele Identifier: CA410424088
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288358G>T , CM000683.2:g.44288358G>T GRCh38
NC_000021.8:g.45708241G>T , CM000683.1:g.45708241G>T GRCh37
NC_000021.7:g.44532669G>T NCBI36
NG_009556.1:g.7479G>T , LRG_18:g.7479G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.552G>T MANE Select ENSP00000291582.5:p.Met184Ile
ENST00000291582.5:c.552G>T ENSP00000291582.5:p.Met184Ile
ENST00000527919.5:n.1096G>T
ENST00000530812.5:n.1104G>T
NM_000383.3:c.552G>T NP_000374.1:p.Met184Ile
XM_011529551.1:c.552G>T XP_011527853.1:p.Met184Ile
NM_000383.4:c.552G>T MANE Select NP_000374.1:p.Met184Ile