Canonical Allele Identifier: CA410424105
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1191155154
gnomAD v2: 21-45708251-G-C
gnomAD v4: 21-44288368-G-C
MyVariant Identifiers: chr21:g.45708251G>C (hg19) chr21:g.44288368G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288368G>C , CM000683.2:g.44288368G>C GRCh38
NC_000021.8:g.45708251G>C , CM000683.1:g.45708251G>C GRCh37
NC_000021.7:g.44532679G>C NCBI36
NG_009556.1:g.7489G>C , LRG_18:g.7489G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.562G>C MANE Select ENSP00000291582.5:p.Val188Leu
ENST00000291582.5:c.562G>C ENSP00000291582.5:p.Val188Leu
ENST00000527919.5:n.1106G>C
ENST00000530812.5:n.1114G>C
NM_000383.3:c.562G>C NP_000374.1:p.Val188Leu
XM_011529551.1:c.562G>C XP_011527853.1:p.Val188Leu
NM_000383.4:c.562G>C MANE Select NP_000374.1:p.Val188Leu
Search 100 bp 5'
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