Canonical Allele Identifier: CA410426224
Gene: AIRE HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.44297667T>A
GRCh37 chr21:g.45717550T>A
Revel Score:
ENST00000291582 (MANE Select) 0.611
ENST00000337909 0.611
ENST00000397994 0.611
ENST00000355347 0.611
dbSNP:
1133779
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44297667T>A , CM000683.2:g.44297667T>A GRCh38
NC_000021.8:g.45717550T>A , CM000683.1:g.45717550T>A GRCh37
NC_000021.7:g.44541978T>A NCBI36
NG_009556.1:g.16788T>A , LRG_18:g.16788T>A
NG_034033.1:g.2634T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1578T>A MANE Select ENSP00000291582.5:p.Asp526Glu
ENST00000291582.5:c.1578T>A ENSP00000291582.5:p.Asp526Glu
ENST00000337909.5:n.1039T>A
ENST00000397994.8:n.957T>A
ENST00000527919.5:n.2337T>A
ENST00000530812.5:n.3325T>A
NM_000383.3:c.1578T>A NP_000374.1:p.Asp526Glu
XM_011529551.1:c.1575T>A XP_011527853.1:p.Asp525Glu
NM_000383.4:c.1578T>A MANE Select NP_000374.1:p.Asp526Glu
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