Canonical Allele Identifier: CA512491045
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709685C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289802C>A , CM000683.2:g.44289802C>A GRCh38
NC_000021.8:g.45709685C>A , CM000683.1:g.45709685C>A GRCh37
NC_000021.7:g.44534113C>A NCBI36
NG_009556.1:g.8923C>A , LRG_18:g.8923C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.798C>A MANE Select ENSP00000291582.5:p.Pro266=
ENST00000291582.5:c.798C>A ENSP00000291582.5:p.Pro266=
ENST00000527919.5:n.1531C>A
ENST00000530812.5:n.2548C>A
NM_000383.3:c.798C>A NP_000374.1:p.Pro266=
XM_011529551.1:c.798C>A XP_011527853.1:p.Pro266=
NM_000383.4:c.798C>A MANE Select NP_000374.1:p.Pro266=
Search 100 bp 5'
Search 100 bp 3'