Canonical Allele Identifier: CA641006234

Gene: ARX

Linked Data

• dbSNP Id: rs1486507014
• gnomAD v2: X-25028331-GC-G
• gnomAD v4: X-25010214-GC-G
• MyVariant Identifiers: chrX:g.25028332del (hg19) ; chrX:g.25010215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010219del , CM000685.2:g.25010219del	GRCh38
NC_000023.10:g.25028336del , CM000685.1:g.25028336del	GRCh37
NC_000023.9:g.24938257del	NCBI36
NG_008281.1:g.10734del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1119+45del MANE Select	ENSP00000368332.4:n.1119+45del
ENST00000379044.4:c.1119+45del	ENSP00000368332.4:n.1119+45del
NM_139058.2:c.1119+45del	NP_620689.1:n.1119+45del
NM_139058.3:c.1119+45del MANE Select	NP_620689.1:n.1119+45del