Canonical Allele Identifier: CA749677291
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1319362464
gnomAD v4: 21-44287625-C-A
MyVariant Identifiers: chr21:g.45707508C>A (hg19) chr21:g.44287625C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287625C>A , CM000683.2:g.44287625C>A GRCh38
NC_000021.8:g.45707508C>A , CM000683.1:g.45707508C>A GRCh37
NC_000021.7:g.44531936C>A NCBI36
NG_009556.1:g.6746C>A , LRG_18:g.6746C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.538+34C>A MANE Select ENSP00000291582.5:n.538+34C>A
ENST00000291582.5:c.538+34C>A ENSP00000291582.5:n.538+34C>A
ENST00000527919.5:n.1082+34C>A
ENST00000530812.5:n.1090+34C>A
NM_000383.3:c.538+34C>A NP_000374.1:n.538+34C>A
XM_011529551.1:c.538+34C>A XP_011527853.1:n.538+34C>A
NM_000383.4:c.538+34C>A MANE Select NP_000374.1:n.538+34C>A
Search 100 bp 5'
Search 100 bp 3'