Canonical Allele Identifier: CA206413

Gene: ARX

Linked Data

• ClinVar Variation Id: 210322
• ClinVar RCV Id: RCV000193135 ; RCV000624792 ; RCV001046771 ; RCV001249486
• dbSNP Id: rs746120093
• ExAC: X:25022915 C / T
• gnomAD v2: X-25022915-C-T
• gnomAD v3: X-25004798-C-T
• gnomAD v4: X-25004798-C-T
• MyVariant Identifiers: chrX:g.25022915C>T (hg19) ; chrX:g.25004798C>T (hg38)
• PubMed: PMID:1605226 ; PMID:3177452 ; PMID:10398246 ; PMID:11971879 ; PMID:12379852 ; PMID:14722918 ; PMID:17668384 ; PMID:19439424 ; PMID:20506206 ; PMID:22252899 ; PMID:23246292 ; PMID:25044608 ; PMID:27781032 ; PMID:28150386

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004798C>T , CM000685.2:g.25004798C>T	GRCh38
NC_000023.10:g.25022915C>T , CM000685.1:g.25022915C>T	GRCh37
NC_000023.9:g.24932836C>T	NCBI36
NG_008281.1:g.16151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1561G>A MANE Select	ENSP00000368332.4:p.Ala521Thr
ENST00000379044.4:c.1561G>A	ENSP00000368332.4:p.Ala521Thr
NM_139058.2:c.1561G>A	NP_620689.1:p.Ala521Thr
NM_139058.3:c.1561G>A MANE Select	NP_620689.1:p.Ala521Thr