Canonical Allele Identifier: CA171150

Gene: ARX

Linked Data

• ClinVar Variation Id: 157753
• ClinVar RCV Id: RCV000145052 ; RCV000734606 ; RCV001087726 ; RCV002444600
• dbSNP Id: rs587783196
• gnomAD v3: X-25013689-C-A
• gnomAD v4: X-25013689-C-A
• MyVariant Identifiers: chrX:g.25031806C>A (hg19) ; chrX:g.25013689C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013689C>A , CM000685.2:g.25013689C>A	GRCh38
NC_000023.10:g.25031806C>A , CM000685.1:g.25031806C>A	GRCh37
NC_000023.9:g.24941727C>A	NCBI36
NG_008281.1:g.7260G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.306G>T MANE Select	ENSP00000368332.4:p.Ala102=
ENST00000379044.4:c.306G>T	ENSP00000368332.4:p.Ala102=
NM_139058.2:c.306G>T	NP_620689.1:p.Ala102=
NM_139058.3:c.306G>T MANE Select	NP_620689.1:p.Ala102=