Canonical Allele Identifier: CA412612777

Gene: ARX

Linked Data

• ClinVar Variation Id: 2233744
• ClinVar RCV Id: RCV002718092
• gnomAD v4: X-25013367-C-T
• MyVariant Identifiers: chrX:g.25031484C>T (hg19) ; chrX:g.25013367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013367C>T , CM000685.2:g.25013367C>T	GRCh38
NC_000023.10:g.25031484C>T , CM000685.1:g.25031484C>T	GRCh37
NC_000023.9:g.24941405C>T	NCBI36
NG_008281.1:g.7582G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.628G>A MANE Select	ENSP00000368332.4:p.Gly210Ser
ENST00000379044.4:c.628G>A	ENSP00000368332.4:p.Gly210Ser
NM_139058.2:c.628G>A	NP_620689.1:p.Gly210Ser
NM_139058.3:c.628G>A MANE Select	NP_620689.1:p.Gly210Ser