Canonical Allele Identifier: CA2654790599
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44292412-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292412G>C , CM000683.2:g.44292412G>C GRCh38
NC_000021.8:g.45712295G>C , CM000683.1:g.45712295G>C GRCh37
NC_000021.7:g.44536723G>C NCBI36
NG_009556.1:g.11533G>C , LRG_18:g.11533G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1095+11G>C MANE Select ENSP00000291582.5:n.1095+11G>C
ENST00000291582.5:c.1095+11G>C ENSP00000291582.5:n.1095+11G>C
ENST00000337909.5:n.556+11G>C
ENST00000397994.8:n.556+11G>C
ENST00000527919.5:n.1825+11G>C
ENST00000530812.5:n.2842+11G>C
NM_000383.3:c.1095+11G>C NP_000374.1:n.1095+11G>C
XM_011529551.1:c.1092+11G>C XP_011527853.1:n.1092+11G>C
NM_000383.4:c.1095+11G>C MANE Select NP_000374.1:n.1095+11G>C
Search 100 bp 5'
Search 100 bp 3'