Canonical Allele Identifier: CA645609304
Gene: AIRE HGNC NCBI

Linked Data

COSMIC: COSM6244885
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290838G>T , CM000683.2:g.44290838G>T GRCh38
NC_000021.8:g.45710721G>T , CM000683.1:g.45710721G>T GRCh37
NC_000021.7:g.44535149G>T NCBI36
NG_009556.1:g.9959G>T , LRG_18:g.9959G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-257G>T MANE Select ENSP00000291582.5:n.880-257G>T
ENST00000291582.5:c.880-257G>T ENSP00000291582.5:n.880-257G>T
ENST00000337909.5:n.84G>T
ENST00000397994.8:n.84G>T
ENST00000527919.5:n.1613-260G>T
ENST00000530812.5:n.2630-260G>T
NM_000383.3:c.880-257G>T NP_000374.1:n.880-257G>T
XM_011529551.1:c.880-260G>T XP_011527853.1:n.880-260G>T
NM_000383.4:c.880-257G>T MANE Select NP_000374.1:n.880-257G>T
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