Canonical Allele Identifier: CA327732828

Gene: ARX

Linked Data

• dbSNP Id: rs943225510
• gnomAD v3: X-25010406-C-A
• gnomAD v4: X-25010406-C-A
• MyVariant Identifiers: chrX:g.25028523C>A (hg19) ; chrX:g.25010406C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010406C>A , CM000685.2:g.25010406C>A	GRCh38
NC_000023.10:g.25028523C>A , CM000685.1:g.25028523C>A	GRCh37
NC_000023.9:g.24938444C>A	NCBI36
NG_008281.1:g.10543G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1074-101G>T MANE Select	ENSP00000368332.4:n.1074-101G>T
ENST00000379044.4:c.1074-101G>T	ENSP00000368332.4:n.1074-101G>T
NM_139058.2:c.1074-101G>T	NP_620689.1:n.1074-101G>T
NM_139058.3:c.1074-101G>T MANE Select	NP_620689.1:n.1074-101G>T