Canonical Allele Identifier: CA410424584
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1280876073
gnomAD v2: 21-45709675-G-C
gnomAD v4: 21-44289792-G-C
MyVariant Identifiers: chr21:g.45709675G>C (hg19) chr21:g.44289792G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289792G>C , CM000683.2:g.44289792G>C GRCh38
NC_000021.8:g.45709675G>C , CM000683.1:g.45709675G>C GRCh37
NC_000021.7:g.44534103G>C NCBI36
NG_009556.1:g.8913G>C , LRG_18:g.8913G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.788G>C MANE Select ENSP00000291582.5:p.Gly263Ala
ENST00000291582.5:c.788G>C ENSP00000291582.5:p.Gly263Ala
ENST00000527919.5:n.1521G>C
ENST00000530812.5:n.2538G>C
NM_000383.3:c.788G>C NP_000374.1:p.Gly263Ala
XM_011529551.1:c.788G>C XP_011527853.1:p.Gly263Ala
NM_000383.4:c.788G>C MANE Select NP_000374.1:p.Gly263Ala
Search 100 bp 5'
Search 100 bp 3'