Canonical Allele Identifier: CA2420207126
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007457C= , CM000685.2:g.25007457C= GRCh38
NC_000023.10:g.25025574C= , CM000685.1:g.25025574C= GRCh37
NC_000023.9:g.24935495C= NCBI36
NG_008281.1:g.13492G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1120-18G= MANE Select ENSP00000368332.4:n.1120-18G=
ENST00000379044.4:c.1120-18G= ENSP00000368332.4:n.1120-18G=
NM_139058.2:c.1120-18G= NP_620689.1:n.1120-18G=
NM_139058.3:c.1120-18G= MANE Select NP_620689.1:n.1120-18G=
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