Canonical Allele Identifier: CA2420209338
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013581C= , CM000685.2:g.25013581C= GRCh38
NC_000023.10:g.25031698C= , CM000685.1:g.25031698C= GRCh37
NC_000023.9:g.24941619C= NCBI36
NG_008281.1:g.7368G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.414G= MANE Select ENSP00000368332.4:p.Arg138=
ENST00000379044.4:c.414G= ENSP00000368332.4:p.Arg138=
NM_139058.2:c.414G= NP_620689.1:p.Arg138=
NM_139058.3:c.414G= MANE Select NP_620689.1:p.Arg138=
Search 100 bp 5'
Search 100 bp 3'