Canonical Allele Identifier: CA151715
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 128329
ClinVar RCV Id: RCV000116292 RCV000710491 RCV001273731
dbSNP Id: rs1800525
ExAC: 21:45712290 G / A
gnomAD v2: 21-45712290-G-A
gnomAD v3: 21-44292407-G-A
gnomAD v4: 21-44292407-G-A
MyVariant Identifiers: chr21:g.45712290G>A (hg19) chr21:g.44292407G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292407G>A , CM000683.2:g.44292407G>A GRCh38
NC_000021.8:g.45712290G>A , CM000683.1:g.45712290G>A GRCh37
NC_000021.7:g.44536718G>A NCBI36
NG_009556.1:g.11528G>A , LRG_18:g.11528G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1095+6G>A MANE Select ENSP00000291582.5:n.1095+6G>A
ENST00000291582.5:c.1095+6G>A ENSP00000291582.5:n.1095+6G>A
ENST00000337909.5:n.556+6G>A
ENST00000397994.8:n.556+6G>A
ENST00000527919.5:n.1825+6G>A
ENST00000530812.5:n.2842+6G>A
NM_000383.3:c.1095+6G>A NP_000374.1:n.1095+6G>A
XM_011529551.1:c.1092+6G>A XP_011527853.1:n.1092+6G>A
NM_000383.4:c.1095+6G>A MANE Select NP_000374.1:n.1095+6G>A
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