Canonical Allele Identifier: CA512490959

Gene: AIRE

Linked Data

• ClinVar Variation Id: 2093493
• ClinVar RCV Id: RCV003010053
• MyVariant Identifiers: chr21:g.45709583T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289700T>C , CM000683.2:g.44289700T>C	GRCh38
NC_000021.8:g.45709583T>C , CM000683.1:g.45709583T>C	GRCh37
NC_000021.7:g.44534011T>C	NCBI36
NG_009556.1:g.8821T>C , LRG_18:g.8821T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.696T>C MANE Select	ENSP00000291582.5:p.Thr232=
ENST00000291582.5:c.696T>C	ENSP00000291582.5:p.Thr232=
ENST00000527919.5:n.1429T>C
ENST00000530812.5:n.2446T>C
NM_000383.3:c.696T>C	NP_000374.1:p.Thr232=
XM_011529551.1:c.696T>C	XP_011527853.1:p.Thr232=
NM_000383.4:c.696T>C MANE Select	NP_000374.1:p.Thr232=