Canonical Allele Identifier: CA410423224
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45706453T>C (hg19) chr21:g.44286570T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286570T>C , CM000683.2:g.44286570T>C GRCh38
NC_000021.8:g.45706453T>C , CM000683.1:g.45706453T>C GRCh37
NC_000021.7:g.44530881T>C NCBI36
NG_009556.1:g.5691T>C , LRG_18:g.5691T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.146T>C MANE Select ENSP00000291582.5:p.Leu49Pro
ENST00000291582.5:c.146T>C ENSP00000291582.5:p.Leu49Pro
ENST00000527919.5:n.307T>C
ENST00000530812.5:n.315T>C
NM_000383.3:c.146T>C NP_000374.1:p.Leu49Pro
XM_011529551.1:c.146T>C XP_011527853.1:p.Leu49Pro
NM_000383.4:c.146T>C MANE Select NP_000374.1:p.Leu49Pro
Search 100 bp 5'
Search 100 bp 3'