Canonical Allele Identifier: CA512490956

Gene: AIRE

Linked Data

• dbSNP Id: rs1601966566
• MyVariant Identifiers: chr21:g.45709577C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289694C>T , CM000683.2:g.44289694C>T	GRCh38
NC_000021.8:g.45709577C>T , CM000683.1:g.45709577C>T	GRCh37
NC_000021.7:g.44534005C>T	NCBI36
NG_009556.1:g.8815C>T , LRG_18:g.8815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.690C>T MANE Select	ENSP00000291582.5:p.Phe230=
ENST00000291582.5:c.690C>T	ENSP00000291582.5:p.Phe230=
ENST00000527919.5:n.1423C>T
ENST00000530812.5:n.2440C>T
NM_000383.3:c.690C>T	NP_000374.1:p.Phe230=
XM_011529551.1:c.690C>T	XP_011527853.1:p.Phe230=
NM_000383.4:c.690C>T MANE Select	NP_000374.1:p.Phe230=