Canonical Allele Identifier: CA645373293

Gene: ARX

Linked Data

• ClinVar Variation Id: 434396
• ClinVar RCV Id: RCV000499705
• dbSNP Id: rs1556049694
• MyVariant Identifiers: chrX:g.25025535del (hg19) ; chrX:g.25007418del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007420del , CM000685.2:g.25007420del	GRCh38
NC_000023.10:g.25025537del , CM000685.1:g.25025537del	GRCh37
NC_000023.9:g.24935458del	NCBI36
NG_008281.1:g.13531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1141del MANE Select	ENSP00000368332.4:p.Ala381ProfsTer?
ENST00000379044.4:c.1141del	ENSP00000368332.4:p.Ala381ProfsTer?
NM_139058.2:c.1141del	NP_620689.1:p.Ala381ProfsTer?
NM_139058.3:c.1141del MANE Select	NP_620689.1:p.Ala381ProfsTer?