Canonical Allele Identifier: CA412610586
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25022834G>T (hg19) chrX:g.25004717G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004717G>T , CM000685.2:g.25004717G>T GRCh38
NC_000023.10:g.25022834G>T , CM000685.1:g.25022834G>T GRCh37
NC_000023.9:g.24932755G>T NCBI36
NG_008281.1:g.16232C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1642C>A MANE Select ENSP00000368332.4:p.Gln548Lys
ENST00000379044.4:c.1642C>A ENSP00000368332.4:p.Gln548Lys
NM_139058.2:c.1642C>A NP_620689.1:p.Gln548Lys
NM_139058.3:c.1642C>A MANE Select NP_620689.1:p.Gln548Lys
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