Canonical Allele Identifier: CA410424455
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289729G>T , CM000683.2:g.44289729G>T GRCh38
NC_000021.8:g.45709612G>T , CM000683.1:g.45709612G>T GRCh37
NC_000021.7:g.44534040G>T NCBI36
NG_009556.1:g.8850G>T , LRG_18:g.8850G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.725G>T MANE Select ENSP00000291582.5:p.Gly242Val
ENST00000291582.5:c.725G>T ENSP00000291582.5:p.Gly242Val
ENST00000527919.5:n.1458G>T
ENST00000530812.5:n.2475G>T
NM_000383.3:c.725G>T NP_000374.1:p.Gly242Val
XM_011529551.1:c.725G>T XP_011527853.1:p.Gly242Val
NM_000383.4:c.725G>T MANE Select NP_000374.1:p.Gly242Val