Canonical Allele Identifier: CA2654789122
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44287236-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287236G>C , CM000683.2:g.44287236G>C GRCh38
NC_000021.8:g.45707119G>C , CM000683.1:g.45707119G>C GRCh37
NC_000021.7:g.44531547G>C NCBI36
NG_009556.1:g.6357G>C , LRG_18:g.6357G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+103G>C MANE Select ENSP00000291582.5:n.463+103G>C
ENST00000291582.5:c.463+103G>C ENSP00000291582.5:n.463+103G>C
ENST00000527919.5:n.727G>C
ENST00000530812.5:n.735G>C
NM_000383.3:c.463+103G>C NP_000374.1:n.463+103G>C
XM_011529551.1:c.463+103G>C XP_011527853.1:n.463+103G>C
NM_000383.4:c.463+103G>C MANE Select NP_000374.1:n.463+103G>C
Search 100 bp 5'
Search 100 bp 3'