Canonical Allele Identifier: CA874145282

Gene: ARX

Linked Data

• dbSNP Id: rs1366889526
• gnomAD v3: X-25010352-A-G
• gnomAD v4: X-25010352-A-G
• MyVariant Identifiers: chrX:g.25028469A>G (hg19) ; chrX:g.25010352A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010352A>G , CM000685.2:g.25010352A>G	GRCh38
NC_000023.10:g.25028469A>G , CM000685.1:g.25028469A>G	GRCh37
NC_000023.9:g.24938390A>G	NCBI36
NG_008281.1:g.10597T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1074-47T>C MANE Select	ENSP00000368332.4:n.1074-47T>C
ENST00000379044.4:c.1074-47T>C	ENSP00000368332.4:n.1074-47T>C
NM_139058.2:c.1074-47T>C	NP_620689.1:n.1074-47T>C
NM_139058.3:c.1074-47T>C MANE Select	NP_620689.1:n.1074-47T>C