Canonical Allele Identifier: CA10052149
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs753294505
ExAC: 21:45714401 G / C
gnomAD v2: 21-45714401-G-C
gnomAD v4: 21-44294518-G-C
MyVariant Identifiers: chr21:g.45714401G>C (hg19) chr21:g.44294518G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44294518G>C , CM000683.2:g.44294518G>C GRCh38
NC_000021.8:g.45714401G>C , CM000683.1:g.45714401G>C GRCh37
NC_000021.7:g.44538829G>C NCBI36
NG_009556.1:g.13639G>C , LRG_18:g.13639G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1503+15G>C MANE Select ENSP00000291582.5:n.1503+15G>C
ENST00000291582.5:c.1503+15G>C ENSP00000291582.5:n.1503+15G>C
ENST00000337909.5:n.964+15G>C
ENST00000397994.8:n.882+15G>C
ENST00000527919.5:n.2262+15G>C
ENST00000530812.5:n.3250+15G>C
NM_000383.3:c.1503+15G>C NP_000374.1:n.1503+15G>C
XM_011529551.1:c.1500+15G>C XP_011527853.1:n.1500+15G>C
NM_000383.4:c.1503+15G>C MANE Select NP_000374.1:n.1503+15G>C
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