Canonical Allele Identifier: CA410424249
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288441-A-G
MyVariant Identifiers: chr21:g.45708324A>G (hg19) chr21:g.44288441A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288441A>G , CM000683.2:g.44288441A>G GRCh38
NC_000021.8:g.45708324A>G , CM000683.1:g.45708324A>G GRCh37
NC_000021.7:g.44532752A>G NCBI36
NG_009556.1:g.7562A>G , LRG_18:g.7562A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.635A>G MANE Select ENSP00000291582.5:p.Gln212Arg
ENST00000291582.5:c.635A>G ENSP00000291582.5:p.Gln212Arg
ENST00000527919.5:n.1179A>G
ENST00000530812.5:n.1187A>G
NM_000383.3:c.635A>G NP_000374.1:p.Gln212Arg
XM_011529551.1:c.635A>G XP_011527853.1:p.Gln212Arg
NM_000383.4:c.635A>G MANE Select NP_000374.1:p.Gln212Arg
Search 100 bp 5'
Search 100 bp 3'