Canonical Allele Identifier: CA410425060
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45712194G>C (hg19) chr21:g.44292311G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292311G>C , CM000683.2:g.44292311G>C GRCh38
NC_000021.8:g.45712194G>C , CM000683.1:g.45712194G>C GRCh37
NC_000021.7:g.44536622G>C NCBI36
NG_009556.1:g.11432G>C , LRG_18:g.11432G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1005G>C MANE Select ENSP00000291582.5:p.Trp335Cys
ENST00000291582.5:c.1005G>C ENSP00000291582.5:p.Trp335Cys
ENST00000337909.5:n.466G>C
ENST00000397994.8:n.466G>C
ENST00000527919.5:n.1735G>C
ENST00000530812.5:n.2752G>C
NM_000383.3:c.1005G>C NP_000374.1:p.Trp335Cys
XM_011529551.1:c.1002G>C XP_011527853.1:p.Trp334Cys
NM_000383.4:c.1005G>C MANE Select NP_000374.1:p.Trp335Cys
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