Canonical Allele Identifier: CA410424574
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1075834
ClinVar RCV Id: RCV001389532
dbSNP Id: rs2146379356
MyVariant Identifiers: chr21:g.45709671C>T (hg19) chr21:g.44289788C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289788C>T , CM000683.2:g.44289788C>T GRCh38
NC_000021.8:g.45709671C>T , CM000683.1:g.45709671C>T GRCh37
NC_000021.7:g.44534099C>T NCBI36
NG_009556.1:g.8909C>T , LRG_18:g.8909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.784C>T MANE Select ENSP00000291582.5:p.Gln262Ter
ENST00000291582.5:c.784C>T ENSP00000291582.5:p.Gln262Ter
ENST00000527919.5:n.1517C>T
ENST00000530812.5:n.2534C>T
NM_000383.3:c.784C>T NP_000374.1:p.Gln262Ter
XM_011529551.1:c.784C>T XP_011527853.1:p.Gln262Ter
NM_000383.4:c.784C>T MANE Select NP_000374.1:p.Gln262Ter
Search 100 bp 5'
Search 100 bp 3'