Canonical Allele Identifier: CA512490201
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45706550G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286667G>T , CM000683.2:g.44286667G>T GRCh38
NC_000021.8:g.45706550G>T , CM000683.1:g.45706550G>T GRCh37
NC_000021.7:g.44530978G>T NCBI36
NG_009556.1:g.5788G>T , LRG_18:g.5788G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.243G>T MANE Select ENSP00000291582.5:p.Leu81=
ENST00000291582.5:c.243G>T ENSP00000291582.5:p.Leu81=
ENST00000527919.5:n.404G>T
ENST00000530812.5:n.412G>T
NM_000383.3:c.243G>T NP_000374.1:p.Leu81=
XM_011529551.1:c.243G>T XP_011527853.1:p.Leu81=
NM_000383.4:c.243G>T MANE Select NP_000374.1:p.Leu81=
Search 100 bp 5'
Search 100 bp 3'