Canonical Allele Identifier: CA749685157
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1412850263
gnomAD v3: 21-44296352-G-C
gnomAD v4: 21-44296352-G-C
MyVariant Identifiers: chr21:g.45716235G>C (hg19) chr21:g.44296352G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296352G>C , CM000683.2:g.44296352G>C GRCh38
NC_000021.8:g.45716235G>C , CM000683.1:g.45716235G>C GRCh37
NC_000021.7:g.44540663G>C NCBI36
NG_009556.1:g.15473G>C , LRG_18:g.15473G>C
NG_034033.1:g.1319G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1504-31G>C MANE Select ENSP00000291582.5:n.1504-31G>C
ENST00000291582.5:c.1504-31G>C ENSP00000291582.5:n.1504-31G>C
ENST00000337909.5:n.965-31G>C
ENST00000397994.8:n.883-31G>C
ENST00000527919.5:n.2263-31G>C
ENST00000530812.5:n.3251-31G>C
NM_000383.3:c.1504-31G>C NP_000374.1:n.1504-31G>C
XM_011529551.1:c.1501-31G>C XP_011527853.1:n.1501-31G>C
NM_000383.4:c.1504-31G>C MANE Select NP_000374.1:n.1504-31G>C
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