Canonical Allele Identifier: CA2579637399
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25010214-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010214G>T , CM000685.2:g.25010214G>T GRCh38
NC_000023.10:g.25028331G>T , CM000685.1:g.25028331G>T GRCh37
NC_000023.9:g.24938252G>T NCBI36
NG_008281.1:g.10735C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+46C>A MANE Select ENSP00000368332.4:n.1119+46C>A
ENST00000379044.4:c.1119+46C>A ENSP00000368332.4:n.1119+46C>A
NM_139058.2:c.1119+46C>A NP_620689.1:n.1119+46C>A
NM_139058.3:c.1119+46C>A MANE Select NP_620689.1:n.1119+46C>A
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