Canonical Allele Identifier: CA512491105
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709912C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290029C>A , CM000683.2:g.44290029C>A GRCh38
NC_000021.8:g.45709912C>A , CM000683.1:g.45709912C>A GRCh37
NC_000021.7:g.44534340C>A NCBI36
NG_009556.1:g.9150C>A , LRG_18:g.9150C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.840C>A MANE Select ENSP00000291582.5:p.Pro280=
ENST00000291582.5:c.840C>A ENSP00000291582.5:p.Pro280=
ENST00000527919.5:n.1573C>A
ENST00000530812.5:n.2590C>A
NM_000383.3:c.840C>A NP_000374.1:p.Pro280=
XM_011529551.1:c.840C>A XP_011527853.1:p.Pro280=
NM_000383.4:c.840C>A MANE Select NP_000374.1:p.Pro280=
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Search 100 bp 3'