Canonical Allele Identifier: CA2391565134
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040483208
gnomAD v4: 21-44286504-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286504G>C , CM000683.2:g.44286504G>C GRCh38
NC_000021.8:g.45706387G>C , CM000683.1:g.45706387G>C GRCh37
NC_000021.7:g.44530815G>C NCBI36
NG_009556.1:g.5625G>C , LRG_18:g.5625G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.133-53G>C MANE Select ENSP00000291582.5:n.133-53G>C
ENST00000291582.5:c.133-53G>C ENSP00000291582.5:n.133-53G>C
ENST00000527919.5:n.294-53G>C
ENST00000530812.5:n.302-53G>C
NM_000383.3:c.133-53G>C NP_000374.1:n.133-53G>C
XM_011529551.1:c.133-53G>C XP_011527853.1:n.133-53G>C
NM_000383.4:c.133-53G>C MANE Select NP_000374.1:n.133-53G>C
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