Canonical Allele Identifier: CA641364621

Gene: ARX

Linked Data

• dbSNP Id: rs1260643311
• gnomAD v2: X-25030993-G-A
• gnomAD v4: X-25012876-G-A
• MyVariant Identifiers: chrX:g.25030993G>A (hg19) ; chrX:g.25012876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25012876G>A , CM000685.2:g.25012876G>A	GRCh38
NC_000023.10:g.25030993G>A , CM000685.1:g.25030993G>A	GRCh37
NC_000023.9:g.24940914G>A	NCBI36
NG_008281.1:g.8073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1073+46C>T MANE Select	ENSP00000368332.4:n.1073+46C>T
ENST00000379044.4:c.1073+46C>T	ENSP00000368332.4:n.1073+46C>T
NM_139058.2:c.1073+46C>T	NP_620689.1:n.1073+46C>T
NM_139058.3:c.1073+46C>T MANE Select	NP_620689.1:n.1073+46C>T