Canonical Allele Identifier: CA412613584

Gene: ARX

Linked Data

• ClinVar Variation Id: 2952339
• ClinVar RCV Id: RCV003815490
• gnomAD v4: X-25013756-T-C
• MyVariant Identifiers: chrX:g.25031873T>C (hg19) ; chrX:g.25013756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013756T>C , CM000685.2:g.25013756T>C	GRCh38
NC_000023.10:g.25031873T>C , CM000685.1:g.25031873T>C	GRCh37
NC_000023.9:g.24941794T>C	NCBI36
NG_008281.1:g.7193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.239A>G MANE Select	ENSP00000368332.4:p.His80Arg
ENST00000379044.4:c.239A>G	ENSP00000368332.4:p.His80Arg
NM_139058.2:c.239A>G	NP_620689.1:p.His80Arg
NM_139058.3:c.239A>G MANE Select	NP_620689.1:p.His80Arg