Canonical Allele Identifier: CA512490454
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1777210446
MyVariant Identifiers: chr21:g.45707015A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287132A>G , CM000683.2:g.44287132A>G GRCh38
NC_000021.8:g.45707015A>G , CM000683.1:g.45707015A>G GRCh37
NC_000021.7:g.44531443A>G NCBI36
NG_009556.1:g.6253A>G , LRG_18:g.6253A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.462A>G MANE Select ENSP00000291582.5:p.Pro154=
ENST00000291582.5:c.462A>G ENSP00000291582.5:p.Pro154=
ENST00000527919.5:n.623A>G
ENST00000530812.5:n.631A>G
NM_000383.3:c.462A>G NP_000374.1:p.Pro154=
XM_011529551.1:c.462A>G XP_011527853.1:p.Pro154=
NM_000383.4:c.462A>G MANE Select NP_000374.1:p.Pro154=
Search 100 bp 5'
Search 100 bp 3'