Canonical Allele Identifier: CA10373837

Gene: ARX

Linked Data

• dbSNP Id: rs746150039
• ExAC: X:25028389 C / T
• gnomAD v2: X-25028389-C-T
• gnomAD v4: X-25010272-C-T
• MyVariant Identifiers: chrX:g.25028389C>T (hg19) ; chrX:g.25010272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010272C>T , CM000685.2:g.25010272C>T	GRCh38
NC_000023.10:g.25028389C>T , CM000685.1:g.25028389C>T	GRCh37
NC_000023.9:g.24938310C>T	NCBI36
NG_008281.1:g.10677G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1107G>A MANE Select	ENSP00000368332.4:p.Glu369=
ENST00000379044.4:c.1107G>A	ENSP00000368332.4:p.Glu369=
NM_139058.2:c.1107G>A	NP_620689.1:p.Glu369=
NM_139058.3:c.1107G>A MANE Select	NP_620689.1:p.Glu369=