Canonical Allele Identifier: CA10373824

Gene: ARX

Linked Data

• ClinVar Variation Id: 234531
• ClinVar RCV Id: RCV000217574 ; RCV000764873 ; RCV001366501 ; RCV002317744
• dbSNP Id: rs761632870
• ExAC: X:25025506 G / A
• gnomAD v2: X-25025506-G-A
• gnomAD v3: X-25007389-G-A
• gnomAD v4: X-25007389-G-A
• MyVariant Identifiers: chrX:g.25025506G>A (hg19) ; chrX:g.25007389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007389G>A , CM000685.2:g.25007389G>A	GRCh38
NC_000023.10:g.25025506G>A , CM000685.1:g.25025506G>A	GRCh37
NC_000023.9:g.24935427G>A	NCBI36
NG_008281.1:g.13560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1170C>T MANE Select	ENSP00000368332.4:p.Gly390=
ENST00000379044.4:c.1170C>T	ENSP00000368332.4:p.Gly390=
NM_139058.2:c.1170C>T	NP_620689.1:p.Gly390=
NM_139058.3:c.1170C>T MANE Select	NP_620689.1:p.Gly390=