Canonical Allele Identifier: CA233285
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 157751
ClinVar RCV Id: RCV000145050 RCV000766468 RCV001339860 RCV003895021 RCV003242987
dbSNP Id: rs587783194
gnomAD v3: X-25013784-T-A
gnomAD v4: X-25013784-T-A
MyVariant Identifiers: chrX:g.25031901T>A (hg19) chrX:g.25013784T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013784T>A , CM000685.2:g.25013784T>A GRCh38
NC_000023.10:g.25031901T>A , CM000685.1:g.25031901T>A GRCh37
NC_000023.9:g.24941822T>A NCBI36
NG_008281.1:g.7165A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.211A>T MANE Select ENSP00000368332.4:p.Ser71Cys
ENST00000379044.4:c.211A>T ENSP00000368332.4:p.Ser71Cys
NM_139058.2:c.211A>T NP_620689.1:p.Ser71Cys
NM_139058.3:c.211A>T MANE Select NP_620689.1:p.Ser71Cys
Search 100 bp 5'
Search 100 bp 3'