Canonical Allele Identifier: CA321788605
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs892326858
gnomAD v2: 21-45708731-C-G
gnomAD v3: 21-44288848-C-G
gnomAD v4: 21-44288848-C-G
MyVariant Identifiers: chr21:g.45708731C>G (hg19) chr21:g.44288848C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288848C>G , CM000683.2:g.44288848C>G GRCh38
NC_000021.8:g.45708731C>G , CM000683.1:g.45708731C>G GRCh37
NC_000021.7:g.44533159C>G NCBI36
NG_009556.1:g.7969C>G , LRG_18:g.7969C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+390C>G MANE Select ENSP00000291582.5:n.652+390C>G
ENST00000291582.5:c.652+390C>G ENSP00000291582.5:n.652+390C>G
ENST00000527919.5:n.1197-380C>G
ENST00000530812.5:n.1594C>G
NM_000383.3:c.652+390C>G NP_000374.1:n.652+390C>G
XM_011529551.1:c.652+390C>G XP_011527853.1:n.652+390C>G
NM_000383.4:c.652+390C>G MANE Select NP_000374.1:n.652+390C>G
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