Canonical Allele Identifier: CA10052185
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs775784133
ExAC: 21:45716338 C / A
gnomAD v2: 21-45716338-C-A
gnomAD v4: 21-44296455-C-A
MyVariant Identifiers: chr21:g.45716338C>A (hg19) chr21:g.44296455C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296455C>A , CM000683.2:g.44296455C>A GRCh38
NC_000021.8:g.45716338C>A , CM000683.1:g.45716338C>A GRCh37
NC_000021.7:g.44540766C>A NCBI36
NG_009556.1:g.15576C>A , LRG_18:g.15576C>A
NG_034033.1:g.1422C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1566+10C>A MANE Select ENSP00000291582.5:n.1566+10C>A
ENST00000291582.5:c.1566+10C>A ENSP00000291582.5:n.1566+10C>A
ENST00000337909.5:n.1027+10C>A
ENST00000397994.8:n.945+10C>A
ENST00000527919.5:n.2325+10C>A
ENST00000530812.5:n.3313+10C>A
NM_000383.3:c.1566+10C>A NP_000374.1:n.1566+10C>A
XM_011529551.1:c.1563+10C>A XP_011527853.1:n.1563+10C>A
NM_000383.4:c.1566+10C>A MANE Select NP_000374.1:n.1566+10C>A
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