Canonical Allele Identifier: CA512491329

Gene: AIRE

Linked Data

• ClinVar Variation Id: 2179429
• ClinVar RCV Id: RCV002599062
• gnomAD v4: 21-44291184-G-C
• MyVariant Identifiers: chr21:g.45711067G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291184G>C , CM000683.2:g.44291184G>C	GRCh38
NC_000021.8:g.45711067G>C , CM000683.1:g.45711067G>C	GRCh37
NC_000021.7:g.44535495G>C	NCBI36
NG_009556.1:g.10305G>C , LRG_18:g.10305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.969G>C MANE Select	ENSP00000291582.5:p.Leu323=
ENST00000291582.5:c.969G>C	ENSP00000291582.5:p.Leu323=
ENST00000337909.5:n.430G>C
ENST00000397994.8:n.430G>C
ENST00000527919.5:n.1699G>C
ENST00000530812.5:n.2716G>C
NM_000383.3:c.969G>C	NP_000374.1:p.Leu323=
XM_011529551.1:c.966G>C	XP_011527853.1:p.Leu322=
NM_000383.4:c.969G>C MANE Select	NP_000374.1:p.Leu323=