Canonical Allele Identifier: CA512491005

Gene: AIRE

Linked Data

• MyVariant Identifiers: chr21:g.45709652G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289769G>C , CM000683.2:g.44289769G>C	GRCh38
NC_000021.8:g.45709652G>C , CM000683.1:g.45709652G>C	GRCh37
NC_000021.7:g.44534080G>C	NCBI36
NG_009556.1:g.8890G>C , LRG_18:g.8890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.765G>C MANE Select	ENSP00000291582.5:p.Leu255=
ENST00000291582.5:c.765G>C	ENSP00000291582.5:p.Leu255=
ENST00000527919.5:n.1498G>C
ENST00000530812.5:n.2515G>C
NM_000383.3:c.765G>C	NP_000374.1:p.Leu255=
XM_011529551.1:c.765G>C	XP_011527853.1:p.Leu255=
NM_000383.4:c.765G>C MANE Select	NP_000374.1:p.Leu255=