Canonical Allele Identifier: CA2391568089
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1370218333
gnomAD v4: 21-44292219-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292219C>T , CM000683.2:g.44292219C>T GRCh38
NC_000021.8:g.45712102C>T , CM000683.1:g.45712102C>T GRCh37
NC_000021.7:g.44536530C>T NCBI36
NG_009556.1:g.11340C>T , LRG_18:g.11340C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.996-83C>T MANE Select ENSP00000291582.5:n.996-83C>T
ENST00000291582.5:c.996-83C>T ENSP00000291582.5:n.996-83C>T
ENST00000337909.5:n.457-83C>T
ENST00000397994.8:n.457-83C>T
ENST00000527919.5:n.1726-83C>T
ENST00000530812.5:n.2743-83C>T
NM_000383.3:c.996-83C>T NP_000374.1:n.996-83C>T
XM_011529551.1:c.993-83C>T XP_011527853.1:n.993-83C>T
NM_000383.4:c.996-83C>T MANE Select NP_000374.1:n.996-83C>T
Search 100 bp 5'
Search 100 bp 3'