Canonical Allele Identifier: CA10051693
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs147846074
ExAC: 21:45709626 C / G
gnomAD v2: 21-45709626-C-G
gnomAD v3: 21-44289743-C-G
gnomAD v4: 21-44289743-C-G
MyVariant Identifiers: chr21:g.45709626C>G (hg19) chr21:g.45709626_45709629delinsGGCA (hg19) chr21:g.44289743C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289743C>G , CM000683.2:g.44289743C>G GRCh38
NC_000021.8:g.45709626C>G , CM000683.1:g.45709626C>G GRCh37
NC_000021.7:g.44534054C>G NCBI36
NG_009556.1:g.8864C>G , LRG_18:g.8864C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.739C>G MANE Select ENSP00000291582.5:p.Arg247Gly
ENST00000291582.5:c.739C>G ENSP00000291582.5:p.Arg247Gly
ENST00000527919.5:n.1472C>G
ENST00000530812.5:n.2489C>G
NM_000383.3:c.739C>G NP_000374.1:p.Arg247Gly
XM_011529551.1:c.739C>G XP_011527853.1:p.Arg247Gly
NM_000383.4:c.739C>G MANE Select NP_000374.1:p.Arg247Gly
Search 100 bp 5'
Search 100 bp 3'