Canonical Allele Identifier: CA412612445
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031333A>T (hg19) chrX:g.25013216A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013216A>T , CM000685.2:g.25013216A>T GRCh38
NC_000023.10:g.25031333A>T , CM000685.1:g.25031333A>T GRCh37
NC_000023.9:g.24941254A>T NCBI36
NG_008281.1:g.7733T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.779T>A MANE Select ENSP00000368332.4:p.Leu260His
ENST00000379044.4:c.779T>A ENSP00000368332.4:p.Leu260His
NM_139058.2:c.779T>A NP_620689.1:p.Leu260His
NM_139058.3:c.779T>A MANE Select NP_620689.1:p.Leu260His
Search 100 bp 5'
Search 100 bp 3'