Canonical Allele Identifier: CA2391570538
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1601971997
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296295A>C , CM000683.2:g.44296295A>C GRCh38
NC_000021.8:g.45716178A>C , CM000683.1:g.45716178A>C GRCh37
NC_000021.7:g.44540606A>C NCBI36
NG_009556.1:g.15416A>C , LRG_18:g.15416A>C
NG_034033.1:g.1262A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1504-88A>C MANE Select ENSP00000291582.5:n.1504-88A>C
ENST00000291582.5:c.1504-88A>C ENSP00000291582.5:n.1504-88A>C
ENST00000337909.5:n.965-88A>C
ENST00000397994.8:n.883-88A>C
ENST00000527919.5:n.2263-88A>C
ENST00000530812.5:n.3251-88A>C
NM_000383.3:c.1504-88A>C NP_000374.1:n.1504-88A>C
XM_011529551.1:c.1501-88A>C XP_011527853.1:n.1501-88A>C
NM_000383.4:c.1504-88A>C MANE Select NP_000374.1:n.1504-88A>C
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