Canonical Allele Identifier: CA512491254
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1113696
ClinVar RCV Id: RCV001441127
dbSNP Id: rs1368560349
MyVariant Identifiers: chr21:g.45711001G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291118G>C , CM000683.2:g.44291118G>C GRCh38
NC_000021.8:g.45711001G>C , CM000683.1:g.45711001G>C GRCh37
NC_000021.7:g.44535429G>C NCBI36
NG_009556.1:g.10239G>C , LRG_18:g.10239G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.903G>C MANE Select ENSP00000291582.5:p.Val301=
ENST00000291582.5:c.903G>C ENSP00000291582.5:p.Val301=
ENST00000337909.5:n.364G>C
ENST00000397994.8:n.364G>C
ENST00000527919.5:n.1633G>C
ENST00000530812.5:n.2650G>C
NM_000383.3:c.903G>C NP_000374.1:p.Val301=
XM_011529551.1:c.900G>C XP_011527853.1:p.Val300=
NM_000383.4:c.903G>C MANE Select NP_000374.1:p.Val301=
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