Canonical Allele Identifier: CA410424048

Gene: AIRE

Linked Data

• gnomAD v4: 21-44287593-T-C
• MyVariant Identifiers: chr21:g.45707476T>C (hg19) ; chr21:g.44287593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287593T>C , CM000683.2:g.44287593T>C	GRCh38
NC_000021.8:g.45707476T>C , CM000683.1:g.45707476T>C	GRCh37
NC_000021.7:g.44531904T>C	NCBI36
NG_009556.1:g.6714T>C , LRG_18:g.6714T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.538+2T>C MANE Select	ENSP00000291582.5:n.538+2T>C
ENST00000291582.5:c.538+2T>C	ENSP00000291582.5:n.538+2T>C
ENST00000527919.5:n.1082+2T>C
ENST00000530812.5:n.1090+2T>C
NM_000383.3:c.538+2T>C	NP_000374.1:n.538+2T>C
XM_011529551.1:c.538+2T>C	XP_011527853.1:n.538+2T>C
NM_000383.4:c.538+2T>C MANE Select	NP_000374.1:n.538+2T>C