Canonical Allele Identifier: CA658682663
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 11194
ClinVar RCV Id: RCV000011945 RCV001194458 RCV001389322
dbSNP Id: rs1328291159
MyVariant Identifiers: chrX:g.25025489dup (hg19) chrX:g.25007372dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007377dup , CM000685.2:g.25007377dup GRCh38
NC_000023.10:g.25025494dup , CM000685.1:g.25025494dup GRCh37
NC_000023.9:g.24935415dup NCBI36
NG_008281.1:g.13577dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1187dup MANE Select ENSP00000368332.4:p.Gly397TrpfsTer?
ENST00000379044.4:c.1187dup ENSP00000368332.4:p.Gly397TrpfsTer?
NM_139058.2:c.1187dup NP_620689.1:p.Gly397TrpfsTer?
NM_139058.3:c.1187dup MANE Select NP_620689.1:p.Gly397TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'