Canonical Allele Identifier: CA410423692
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1470995707
gnomAD v2: 21-45706919-G-T
MyVariant Identifiers: chr21:g.45706919G>T (hg19) chr21:g.44287036G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287036G>T , CM000683.2:g.44287036G>T GRCh38
NC_000021.8:g.45706919G>T , CM000683.1:g.45706919G>T GRCh37
NC_000021.7:g.44531347G>T NCBI36
NG_009556.1:g.6157G>T , LRG_18:g.6157G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.366G>T MANE Select ENSP00000291582.5:p.Leu122Phe
ENST00000291582.5:c.366G>T ENSP00000291582.5:p.Leu122Phe
ENST00000527919.5:n.527G>T
ENST00000530812.5:n.535G>T
NM_000383.3:c.366G>T NP_000374.1:p.Leu122Phe
XM_011529551.1:c.366G>T XP_011527853.1:p.Leu122Phe
NM_000383.4:c.366G>T MANE Select NP_000374.1:p.Leu122Phe
Search 100 bp 5'
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