Canonical Allele Identifier: CA412613168

Gene: ARX

Linked Data

• ClinVar Variation Id: 2388446
• ClinVar RCV Id: RCV002729876
• gnomAD v4: X-25013549-G-T
• MyVariant Identifiers: chrX:g.25031666G>T (hg19) ; chrX:g.25013549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013549G>T , CM000685.2:g.25013549G>T	GRCh38
NC_000023.10:g.25031666G>T , CM000685.1:g.25031666G>T	GRCh37
NC_000023.9:g.24941587G>T	NCBI36
NG_008281.1:g.7400C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.446C>A MANE Select	ENSP00000368332.4:p.Ala149Glu
ENST00000379044.4:c.446C>A	ENSP00000368332.4:p.Ala149Glu
NM_139058.2:c.446C>A	NP_620689.1:p.Ala149Glu
NM_139058.3:c.446C>A MANE Select	NP_620689.1:p.Ala149Glu