Canonical Allele Identifier: CA294725

Gene: ARX

Linked Data

• ClinVar Variation Id: 156672
• ClinVar RCV Id: RCV000144815 ; RCV001088857 ; RCV000650188 ; RCV002408644 ; RCV003927416
• dbSNP Id: rs587783141
• ExAC: X:25031310 C / A
• gnomAD v2: X-25031310-C-A
• gnomAD v3: X-25013193-C-A
• gnomAD v4: X-25013193-C-A
• MyVariant Identifiers: chrX:g.25031310C>A (hg19) ; chrX:g.25013193C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013193C>A , CM000685.2:g.25013193C>A	GRCh38
NC_000023.10:g.25031310C>A , CM000685.1:g.25031310C>A	GRCh37
NC_000023.9:g.24941231C>A	NCBI36
NG_008281.1:g.7756G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.802G>T MANE Select	ENSP00000368332.4:p.Val268Leu
ENST00000379044.4:c.802G>T	ENSP00000368332.4:p.Val268Leu
NM_139058.2:c.802G>T	NP_620689.1:p.Val268Leu
NM_139058.3:c.802G>T MANE Select	NP_620689.1:p.Val268Leu