Canonical Allele Identifier: CA2654788923
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44286489-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286489T>C , CM000683.2:g.44286489T>C GRCh38
NC_000021.8:g.45706372T>C , CM000683.1:g.45706372T>C GRCh37
NC_000021.7:g.44530800T>C NCBI36
NG_009556.1:g.5610T>C , LRG_18:g.5610T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.133-68T>C MANE Select ENSP00000291582.5:n.133-68T>C
ENST00000291582.5:c.133-68T>C ENSP00000291582.5:n.133-68T>C
ENST00000527919.5:n.294-68T>C
ENST00000530812.5:n.302-68T>C
NM_000383.3:c.133-68T>C NP_000374.1:n.133-68T>C
XM_011529551.1:c.133-68T>C XP_011527853.1:n.133-68T>C
NM_000383.4:c.133-68T>C MANE Select NP_000374.1:n.133-68T>C
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