Canonical Allele Identifier: CA2654790147
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288710-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288710G>C , CM000683.2:g.44288710G>C GRCh38
NC_000021.8:g.45708593G>C , CM000683.1:g.45708593G>C GRCh37
NC_000021.7:g.44533021G>C NCBI36
NG_009556.1:g.7831G>C , LRG_18:g.7831G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+252G>C MANE Select ENSP00000291582.5:n.652+252G>C
ENST00000291582.5:c.652+252G>C ENSP00000291582.5:n.652+252G>C
ENST00000527919.5:n.1196+252G>C
ENST00000530812.5:n.1456G>C
NM_000383.3:c.652+252G>C NP_000374.1:n.652+252G>C
XM_011529551.1:c.652+252G>C XP_011527853.1:n.652+252G>C
NM_000383.4:c.652+252G>C MANE Select NP_000374.1:n.652+252G>C
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