Canonical Allele Identifier: CA2420208992
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048707499
gnomAD v4: X-25012808-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012808A>G , CM000685.2:g.25012808A>G GRCh38
NC_000023.10:g.25030925A>G , CM000685.1:g.25030925A>G GRCh37
NC_000023.9:g.24940846A>G NCBI36
NG_008281.1:g.8141T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+114T>C MANE Select ENSP00000368332.4:n.1073+114T>C
ENST00000379044.4:c.1073+114T>C ENSP00000368332.4:n.1073+114T>C
NM_139058.2:c.1073+114T>C NP_620689.1:n.1073+114T>C
NM_139058.3:c.1073+114T>C MANE Select NP_620689.1:n.1073+114T>C
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