Canonical Allele Identifier: CA10051848

Gene: AIRE

Linked Data

• ClinVar Variation Id: 2701338
• ClinVar RCV Id: RCV003523983
• dbSNP Id: rs777218693
• ExAC: 21:45710972 T / C
• gnomAD v2: 21-45710972-T-C
• gnomAD v4: 21-44291089-T-C
• MyVariant Identifiers: chr21:g.45710972T>C (hg19) ; chr21:g.44291089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291089T>C , CM000683.2:g.44291089T>C	GRCh38
NC_000021.8:g.45710972T>C , CM000683.1:g.45710972T>C	GRCh37
NC_000021.7:g.44535400T>C	NCBI36
NG_009556.1:g.10210T>C , LRG_18:g.10210T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-6T>C MANE Select	ENSP00000291582.5:n.880-6T>C
ENST00000291582.5:c.880-6T>C	ENSP00000291582.5:n.880-6T>C
ENST00000337909.5:n.335T>C
ENST00000397994.8:n.335T>C
ENST00000527919.5:n.1613-9T>C
ENST00000530812.5:n.2630-9T>C
NM_000383.3:c.880-6T>C	NP_000374.1:n.880-6T>C
XM_011529551.1:c.880-9T>C	XP_011527853.1:n.880-9T>C
NM_000383.4:c.880-6T>C MANE Select	NP_000374.1:n.880-6T>C