Canonical Allele Identifier: CA515947187
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 547068
ClinVar RCV Id: RCV000659147 RCV003767904
dbSNP Id: rs1310022652
gnomAD v3: X-25013050-C-T
gnomAD v4: X-25013050-C-T
MyVariant Identifiers: chrX:g.25031167C>T (hg19) chrX:g.25013050C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013050C>T , CM000685.2:g.25013050C>T GRCh38
NC_000023.10:g.25031167C>T , CM000685.1:g.25031167C>T GRCh37
NC_000023.9:g.24941088C>T NCBI36
NG_008281.1:g.7899G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.945G>A MANE Select ENSP00000368332.4:p.Ala315=
ENST00000379044.4:c.945G>A ENSP00000368332.4:p.Ala315=
NM_139058.2:c.945G>A NP_620689.1:p.Ala315=
NM_139058.3:c.945G>A MANE Select NP_620689.1:p.Ala315=
Search 100 bp 5'
Search 100 bp 3'