Canonical Allele Identifier: CA512490722

Gene: AIRE

Linked Data

• MyVariant Identifiers: chr21:g.45708280G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288397G>C , CM000683.2:g.44288397G>C	GRCh38
NC_000021.8:g.45708280G>C , CM000683.1:g.45708280G>C	GRCh37
NC_000021.7:g.44532708G>C	NCBI36
NG_009556.1:g.7518G>C , LRG_18:g.7518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.591G>C MANE Select	ENSP00000291582.5:p.Gly197=
ENST00000291582.5:c.591G>C	ENSP00000291582.5:p.Gly197=
ENST00000527919.5:n.1135G>C
ENST00000530812.5:n.1143G>C
NM_000383.3:c.591G>C	NP_000374.1:p.Gly197=
XM_011529551.1:c.591G>C	XP_011527853.1:p.Gly197=
NM_000383.4:c.591G>C MANE Select	NP_000374.1:p.Gly197=