Canonical Allele Identifier: CA205423

Gene: ARX

Linked Data

• ClinVar Variation Id: 210324
• ClinVar RCV Id: RCV000192540 ; RCV000725344 ; RCV001089016
• dbSNP Id: rs797045294
• gnomAD v2: X-25031812-C-T
• gnomAD v3: X-25013695-C-T
• gnomAD v4: X-25013695-C-T
• MyVariant Identifiers: chrX:g.25031812C>T (hg19) ; chrX:g.25013695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013695C>T , CM000685.2:g.25013695C>T	GRCh38
NC_000023.10:g.25031812C>T , CM000685.1:g.25031812C>T	GRCh37
NC_000023.9:g.24941733C>T	NCBI36
NG_008281.1:g.7254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.300G>A MANE Select	ENSP00000368332.4:p.Ala100=
ENST00000379044.4:c.300G>A	ENSP00000368332.4:p.Ala100=
NM_139058.2:c.300G>A	NP_620689.1:p.Ala100=
NM_139058.3:c.300G>A MANE Select	NP_620689.1:p.Ala100=