Canonical Allele Identifier: CA412613469

Gene: ARX

Linked Data

• ClinVar Variation Id: 2576674
• ClinVar RCV Id: RCV003322979
• gnomAD v4: X-25013700-C-A
• MyVariant Identifiers: chrX:g.25031817C>A (hg19) ; chrX:g.25013700C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013700C>A , CM000685.2:g.25013700C>A	GRCh38
NC_000023.10:g.25031817C>A , CM000685.1:g.25031817C>A	GRCh37
NC_000023.9:g.24941738C>A	NCBI36
NG_008281.1:g.7249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.295G>T MANE Select	ENSP00000368332.4:p.Gly99Cys
ENST00000379044.4:c.295G>T	ENSP00000368332.4:p.Gly99Cys
NM_139058.2:c.295G>T	NP_620689.1:p.Gly99Cys
NM_139058.3:c.295G>T MANE Select	NP_620689.1:p.Gly99Cys