Canonical Allele Identifier: CA10051495
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1480781
ClinVar RCV Id: RCV002022142
dbSNP Id: rs747941115
ExAC: 21:45706480 C / G
gnomAD v2: 21-45706480-C-G
gnomAD v3: 21-44286597-C-G
gnomAD v4: 21-44286597-C-G
MyVariant Identifiers: chr21:g.45706480C>G (hg19) chr21:g.44286597C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286597C>G , CM000683.2:g.44286597C>G GRCh38
NC_000021.8:g.45706480C>G , CM000683.1:g.45706480C>G GRCh37
NC_000021.7:g.44530908C>G NCBI36
NG_009556.1:g.5718C>G , LRG_18:g.5718C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.173C>G MANE Select ENSP00000291582.5:p.Ala58Gly
ENST00000291582.5:c.173C>G ENSP00000291582.5:p.Ala58Gly
ENST00000527919.5:n.334C>G
ENST00000530812.5:n.342C>G
NM_000383.3:c.173C>G NP_000374.1:p.Ala58Gly
XM_011529551.1:c.173C>G XP_011527853.1:p.Ala58Gly
NM_000383.4:c.173C>G MANE Select NP_000374.1:p.Ala58Gly
Search 100 bp 5'
Search 100 bp 3'