Canonical Allele Identifier: CA412613312

Gene: ARX

Linked Data

• ClinVar Variation Id: 1395940
• ClinVar RCV Id: RCV001891511 ; RCV003136271
• dbSNP Id: rs1349449662
• gnomAD v4: X-25013622-C-T
• MyVariant Identifiers: chrX:g.25031739C>T (hg19) ; chrX:g.25013622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013622C>T , CM000685.2:g.25013622C>T	GRCh38
NC_000023.10:g.25031739C>T , CM000685.1:g.25031739C>T	GRCh37
NC_000023.9:g.24941660C>T	NCBI36
NG_008281.1:g.7327G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.373G>A MANE Select	ENSP00000368332.4:p.Ala125Thr
ENST00000379044.4:c.373G>A	ENSP00000368332.4:p.Ala125Thr
NM_139058.2:c.373G>A	NP_620689.1:p.Ala125Thr
NM_139058.3:c.373G>A MANE Select	NP_620689.1:p.Ala125Thr