Canonical Allele Identifier: CA410426068
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45716271C>G (hg19) chr21:g.44296388C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296388C>G , CM000683.2:g.44296388C>G GRCh38
NC_000021.8:g.45716271C>G , CM000683.1:g.45716271C>G GRCh37
NC_000021.7:g.44540699C>G NCBI36
NG_009556.1:g.15509C>G , LRG_18:g.15509C>G
NG_034033.1:g.1355C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1509C>G MANE Select ENSP00000291582.5:p.Asp503Glu
ENST00000291582.5:c.1509C>G ENSP00000291582.5:p.Asp503Glu
ENST00000337909.5:n.970C>G
ENST00000397994.8:n.888C>G
ENST00000527919.5:n.2268C>G
ENST00000530812.5:n.3256C>G
NM_000383.3:c.1509C>G NP_000374.1:p.Asp503Glu
XM_011529551.1:c.1506C>G XP_011527853.1:p.Asp502Glu
NM_000383.4:c.1509C>G MANE Select NP_000374.1:p.Asp503Glu
Search 100 bp 5'
Search 100 bp 3'