Canonical Allele Identifier: CA10373765

Gene: ARX

Linked Data

• ClinVar Variation Id: 2660199
• ClinVar RCV Id: RCV003441141 ; RCV003778452
• dbSNP Id: rs747952341
• ExAC: X:25022847 C / T
• gnomAD v2: X-25022847-C-T
• gnomAD v4: X-25004730-C-T
• MyVariant Identifiers: chrX:g.25022847C>T (hg19) ; chrX:g.25004730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004730C>T , CM000685.2:g.25004730C>T	GRCh38
NC_000023.10:g.25022847C>T , CM000685.1:g.25022847C>T	GRCh37
NC_000023.9:g.24932768C>T	NCBI36
NG_008281.1:g.16219G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1629G>A MANE Select	ENSP00000368332.4:p.Ala543=
ENST00000379044.4:c.1629G>A	ENSP00000368332.4:p.Ala543=
NM_139058.2:c.1629G>A	NP_620689.1:p.Ala543=
NM_139058.3:c.1629G>A MANE Select	NP_620689.1:p.Ala543=