Canonical Allele Identifier: CA10052162

Gene: AIRE

Linked Data

• dbSNP Id: rs770877500
• ExAC: 21:45716238 C / T
• gnomAD v2: 21-45716238-C-T
• gnomAD v3: 21-44296355-C-T
• gnomAD v4: 21-44296355-C-T
• MyVariant Identifiers: chr21:g.45716238C>T (hg19) ; chr21:g.44296355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296355C>T , CM000683.2:g.44296355C>T	GRCh38
NC_000021.8:g.45716238C>T , CM000683.1:g.45716238C>T	GRCh37
NC_000021.7:g.44540666C>T	NCBI36
NG_009556.1:g.15476C>T , LRG_18:g.15476C>T
NG_034033.1:g.1322C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1504-28C>T MANE Select	ENSP00000291582.5:n.1504-28C>T
ENST00000291582.5:c.1504-28C>T	ENSP00000291582.5:n.1504-28C>T
ENST00000337909.5:n.965-28C>T
ENST00000397994.8:n.883-28C>T
ENST00000527919.5:n.2263-28C>T
ENST00000530812.5:n.3251-28C>T
NM_000383.3:c.1504-28C>T	NP_000374.1:n.1504-28C>T
XM_011529551.1:c.1501-28C>T	XP_011527853.1:n.1501-28C>T
NM_000383.4:c.1504-28C>T MANE Select	NP_000374.1:n.1504-28C>T