Canonical Allele Identifier: CA412612150
Gene: ARX HGNC NCBI

Linked Data

COSMIC: COSM4656745
MyVariant Identifiers: chrX:g.25031187C>G (hg19) chrX:g.25013070C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013070C>G , CM000685.2:g.25013070C>G GRCh38
NC_000023.10:g.25031187C>G , CM000685.1:g.25031187C>G GRCh37
NC_000023.9:g.24941108C>G NCBI36
NG_008281.1:g.7879G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.925G>C MANE Select ENSP00000368332.4:p.Asp309His
ENST00000379044.4:c.925G>C ENSP00000368332.4:p.Asp309His
NM_139058.2:c.925G>C NP_620689.1:p.Asp309His
NM_139058.3:c.925G>C MANE Select NP_620689.1:p.Asp309His
Search 100 bp 5'
Search 100 bp 3'