Canonical Allele Identifier: CA412613327

Gene: ARX

Linked Data

• ClinVar Variation Id: 2683584
• ClinVar RCV Id: RCV003480404
• gnomAD v4: X-25013628-C-T
• MyVariant Identifiers: chrX:g.25031745C>T (hg19) ; chrX:g.25013628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013628C>T , CM000685.2:g.25013628C>T	GRCh38
NC_000023.10:g.25031745C>T , CM000685.1:g.25031745C>T	GRCh37
NC_000023.9:g.24941666C>T	NCBI36
NG_008281.1:g.7321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.367G>A MANE Select	ENSP00000368332.4:p.Gly123Arg
ENST00000379044.4:c.367G>A	ENSP00000368332.4:p.Gly123Arg
NM_139058.2:c.367G>A	NP_620689.1:p.Gly123Arg
NM_139058.3:c.367G>A MANE Select	NP_620689.1:p.Gly123Arg