Canonical Allele Identifier: CA412613165

Gene: ARX

Linked Data

• ClinVar Variation Id: 1918085
• ClinVar RCV Id: RCV002601783
• gnomAD v4: X-25013547-C-T
• MyVariant Identifiers: chrX:g.25031664C>T (hg19) ; chrX:g.25013547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013547C>T , CM000685.2:g.25013547C>T	GRCh38
NC_000023.10:g.25031664C>T , CM000685.1:g.25031664C>T	GRCh37
NC_000023.9:g.24941585C>T	NCBI36
NG_008281.1:g.7402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.448G>A MANE Select	ENSP00000368332.4:p.Ala150Thr
ENST00000379044.4:c.448G>A	ENSP00000368332.4:p.Ala150Thr
NM_139058.2:c.448G>A	NP_620689.1:p.Ala150Thr
NM_139058.3:c.448G>A MANE Select	NP_620689.1:p.Ala150Thr