Canonical Allele Identifier: CA171162
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 157762
ClinVar RCV Id: RCV000145061 RCV000868747 RCV002316924 RCV002505121
dbSNP Id: rs587783205
ExAC: X:25031305 G / A
gnomAD v2: X-25031305-G-A
gnomAD v3: X-25013188-G-A
gnomAD v4: X-25013188-G-A
MyVariant Identifiers: chrX:g.25031305G>A (hg19) chrX:g.25013188G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013188G>A , CM000685.2:g.25013188G>A GRCh38
NC_000023.10:g.25031305G>A , CM000685.1:g.25031305G>A GRCh37
NC_000023.9:g.24941226G>A NCBI36
NG_008281.1:g.7761C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.807C>T MANE Select ENSP00000368332.4:p.Ala269=
ENST00000379044.4:c.807C>T ENSP00000368332.4:p.Ala269=
NM_139058.2:c.807C>T NP_620689.1:p.Ala269=
NM_139058.3:c.807C>T MANE Select NP_620689.1:p.Ala269=
Search 100 bp 5'
Search 100 bp 3'