Canonical Allele Identifier: CA410426059
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1444691231
gnomAD v2: 21-45716267-A-G
gnomAD v3: 21-44296384-A-G
gnomAD v4: 21-44296384-A-G
MyVariant Identifiers: chr21:g.45716267A>G (hg19) chr21:g.44296384A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296384A>G , CM000683.2:g.44296384A>G GRCh38
NC_000021.8:g.45716267A>G , CM000683.1:g.45716267A>G GRCh37
NC_000021.7:g.44540695A>G NCBI36
NG_009556.1:g.15505A>G , LRG_18:g.15505A>G
NG_034033.1:g.1351A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1505A>G MANE Select ENSP00000291582.5:p.Asp502Gly
ENST00000291582.5:c.1505A>G ENSP00000291582.5:p.Asp502Gly
ENST00000337909.5:n.966A>G
ENST00000397994.8:n.884A>G
ENST00000527919.5:n.2264A>G
ENST00000530812.5:n.3252A>G
NM_000383.3:c.1505A>G NP_000374.1:p.Asp502Gly
XM_011529551.1:c.1502A>G XP_011527853.1:p.Asp501Gly
NM_000383.4:c.1505A>G MANE Select NP_000374.1:p.Asp502Gly
Search 100 bp 5'
Search 100 bp 3'