Canonical Allele Identifier: CA10051858
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1217643
ClinVar RCV Id: RCV001589902 RCV001729959
dbSNP Id: rs754932526
ExAC: 21:45711014 G / A
gnomAD v2: 21-45711014-G-A
gnomAD v4: 21-44291131-G-A
MyVariant Identifiers: chr21:g.45711014G>A (hg19) chr21:g.44291131G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291131G>A , CM000683.2:g.44291131G>A GRCh38
NC_000021.8:g.45711014G>A , CM000683.1:g.45711014G>A GRCh37
NC_000021.7:g.44535442G>A NCBI36
NG_009556.1:g.10252G>A , LRG_18:g.10252G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.916G>A MANE Select ENSP00000291582.5:p.Gly306Arg
ENST00000291582.5:c.916G>A ENSP00000291582.5:p.Gly306Arg
ENST00000337909.5:n.377G>A
ENST00000397994.8:n.377G>A
ENST00000527919.5:n.1646G>A
ENST00000530812.5:n.2663G>A
NM_000383.3:c.916G>A NP_000374.1:p.Gly306Arg
XM_011529551.1:c.913G>A XP_011527853.1:p.Gly305Arg
NM_000383.4:c.916G>A MANE Select NP_000374.1:p.Gly306Arg
Search 100 bp 5'
Search 100 bp 3'