Canonical Allele Identifier: CA2420209020
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012872G= , CM000685.2:g.25012872G= GRCh38
NC_000023.10:g.25030989G= , CM000685.1:g.25030989G= GRCh37
NC_000023.9:g.24940910G= NCBI36
NG_008281.1:g.8077C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+50C= MANE Select ENSP00000368332.4:n.1073+50C=
ENST00000379044.4:c.1073+50C= ENSP00000368332.4:n.1073+50C=
NM_139058.2:c.1073+50C= NP_620689.1:n.1073+50C=
NM_139058.3:c.1073+50C= MANE Select NP_620689.1:n.1073+50C=
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