Canonical Allele Identifier: CA410424504
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 3103160
ClinVar RCV Id: RCV004388531

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289752A>G , CM000683.2:g.44289752A>G GRCh38
NC_000021.8:g.45709635A>G , CM000683.1:g.45709635A>G GRCh37
NC_000021.7:g.44534063A>G NCBI36
NG_009556.1:g.8873A>G , LRG_18:g.8873A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.748A>G MANE Select ENSP00000291582.5:p.Ser250Gly
ENST00000291582.5:c.748A>G ENSP00000291582.5:p.Ser250Gly
ENST00000527919.5:n.1481A>G
ENST00000530812.5:n.2498A>G
NM_000383.3:c.748A>G NP_000374.1:p.Ser250Gly
XM_011529551.1:c.748A>G XP_011527853.1:p.Ser250Gly
NM_000383.4:c.748A>G MANE Select NP_000374.1:p.Ser250Gly