Canonical Allele Identifier: CA10373870

Gene: ARX

Linked Data

• ClinVar Variation Id: 416367
• ClinVar RCV Id: RCV000462096 ; RCV000504068
• dbSNP Id: rs139301257
• ExAC: X:25031257 C / T
• gnomAD v2: X-25031257-C-T
• gnomAD v3: X-25013140-C-T
• gnomAD v4: X-25013140-C-T
• MyVariant Identifiers: chrX:g.25031257C>T (hg19) ; chrX:g.25013140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013140C>T , CM000685.2:g.25013140C>T	GRCh38
NC_000023.10:g.25031257C>T , CM000685.1:g.25031257C>T	GRCh37
NC_000023.9:g.24941178C>T	NCBI36
NG_008281.1:g.7809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.855G>A MANE Select	ENSP00000368332.4:p.Glu285=
ENST00000379044.4:c.855G>A	ENSP00000368332.4:p.Glu285=
NM_139058.2:c.855G>A	NP_620689.1:p.Glu285=
NM_139058.3:c.855G>A MANE Select	NP_620689.1:p.Glu285=