Canonical Allele Identifier: CA412611663
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25025544T>G (hg19) chrX:g.25007427T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007427T>G , CM000685.2:g.25007427T>G GRCh38
NC_000023.10:g.25025544T>G , CM000685.1:g.25025544T>G GRCh37
NC_000023.9:g.24935465T>G NCBI36
NG_008281.1:g.13522A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1132A>C MANE Select ENSP00000368332.4:p.Asn378His
ENST00000379044.4:c.1132A>C ENSP00000368332.4:p.Asn378His
NM_139058.2:c.1132A>C NP_620689.1:p.Asn378His
NM_139058.3:c.1132A>C MANE Select NP_620689.1:p.Asn378His
Search 100 bp 5'
Search 100 bp 3'