Canonical Allele Identifier: CA2420209067
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012956A= , CM000685.2:g.25012956A= GRCh38
NC_000023.10:g.25031073A= , CM000685.1:g.25031073A= GRCh37
NC_000023.9:g.24940994A= NCBI36
NG_008281.1:g.7993T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1039T= MANE Select ENSP00000368332.4:p.Phe347=
ENST00000379044.4:c.1039T= ENSP00000368332.4:p.Phe347=
NM_139058.2:c.1039T= NP_620689.1:p.Phe347=
NM_139058.3:c.1039T= MANE Select NP_620689.1:p.Phe347=
Search 100 bp 5'
Search 100 bp 3'