Canonical Allele Identifier: CA891843837
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 574104
ClinVar RCV Id: RCV000695939
dbSNP Id: rs1569393457
MyVariant Identifiers: chrX:g.25022916_25022956del (hg19) chrX:g.25004799_25004839del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004804_25004844del , CM000685.2:g.25004804_25004844del GRCh38
NC_000023.10:g.25022921_25022961del , CM000685.1:g.25022921_25022961del GRCh37
NC_000023.9:g.24932842_24932882del NCBI36
NG_008281.1:g.16110_16150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1520_1560del MANE Select ENSP00000368332.4:p.Ala507GlyfsTer11
ENST00000379044.4:c.1520_1560del ENSP00000368332.4:p.Ala507GlyfsTer11
NM_139058.2:c.1520_1560del NP_620689.1:p.Ala507GlyfsTer11
NM_139058.3:c.1520_1560del MANE Select NP_620689.1:p.Ala507GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'