Canonical Allele Identifier: CA1139771217
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1699422
ClinVar RCV Id: RCV002273279
dbSNP Id: rs2147324110
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013493_25013494dup , CM000685.2:g.25013493_25013494dup GRCh38
NC_000023.10:g.25031610_25031611dup , CM000685.1:g.25031610_25031611dup GRCh37
NC_000023.9:g.24941531_24941532dup NCBI36
NG_008281.1:g.7456_7457dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.502_503dup MANE Select ENSP00000368332.4:p.Ser168ArgfsTer?
ENST00000379044.4:c.502_503dup ENSP00000368332.4:p.Ser168ArgfsTer?
NM_139058.2:c.502_503dup NP_620689.1:p.Ser168ArgfsTer?
NM_139058.3:c.502_503dup MANE Select NP_620689.1:p.Ser168ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'