Canonical Allele Identifier: CA410424480
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709623G>C (hg19) chr21:g.44289740G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289740G>C , CM000683.2:g.44289740G>C GRCh38
NC_000021.8:g.45709623G>C , CM000683.1:g.45709623G>C GRCh37
NC_000021.7:g.44534051G>C NCBI36
NG_009556.1:g.8861G>C , LRG_18:g.8861G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.736G>C MANE Select ENSP00000291582.5:p.Ala246Pro
ENST00000291582.5:c.736G>C ENSP00000291582.5:p.Ala246Pro
ENST00000527919.5:n.1469G>C
ENST00000530812.5:n.2486G>C
NM_000383.3:c.736G>C NP_000374.1:p.Ala246Pro
XM_011529551.1:c.736G>C XP_011527853.1:p.Ala246Pro
NM_000383.4:c.736G>C MANE Select NP_000374.1:p.Ala246Pro
Search 100 bp 5'
Search 100 bp 3'