Canonical Allele Identifier: CA213328
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 210330
ClinVar RCV Id: RCV000192991
dbSNP Id: rs797045298
MyVariant Identifiers: chrX:g.25031703dupC (hg19) chrX:g.25031702_25031703insC (hg19) chrX:g.25013586dupC (hg38) chrX:g.25013585_25013586insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013589dup , CM000685.2:g.25013589dup GRCh38
NC_000023.10:g.25031706dup , CM000685.1:g.25031706dup GRCh37
NC_000023.9:g.24941627dup NCBI36
NG_008281.1:g.7363dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.409dup MANE Select ENSP00000368332.4:p.Glu137GlyfsTer?
ENST00000379044.4:c.409dup ENSP00000368332.4:p.Glu137GlyfsTer?
NM_139058.2:c.409dup NP_620689.1:p.Glu137GlyfsTer?
NM_139058.3:c.409dup MANE Select NP_620689.1:p.Glu137GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'