Canonical Allele Identifier: CA2580100525
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2058911
ClinVar RCV Id: RCV002952527
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010244C>T , CM000685.2:g.25010244C>T GRCh38
NC_000023.10:g.25028361C>T , CM000685.1:g.25028361C>T GRCh37
NC_000023.9:g.24938282C>T NCBI36
NG_008281.1:g.10705G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+16G>A MANE Select ENSP00000368332.4:n.1119+16G>A
ENST00000379044.4:c.1119+16G>A ENSP00000368332.4:n.1119+16G>A
NM_139058.2:c.1119+16G>A NP_620689.1:n.1119+16G>A
NM_139058.3:c.1119+16G>A MANE Select NP_620689.1:n.1119+16G>A
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