Canonical Allele Identifier: CA2654789856
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288462-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288462G>C , CM000683.2:g.44288462G>C GRCh38
NC_000021.8:g.45708345G>C , CM000683.1:g.45708345G>C GRCh37
NC_000021.7:g.44532773G>C NCBI36
NG_009556.1:g.7583G>C , LRG_18:g.7583G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.652+4G>C MANE Select ENSP00000291582.5:n.652+4G>C
ENST00000291582.5:c.652+4G>C ENSP00000291582.5:n.652+4G>C
ENST00000527919.5:n.1196+4G>C
ENST00000530812.5:n.1208G>C
NM_000383.3:c.652+4G>C NP_000374.1:n.652+4G>C
XM_011529551.1:c.652+4G>C XP_011527853.1:n.652+4G>C
NM_000383.4:c.652+4G>C MANE Select NP_000374.1:n.652+4G>C
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