Canonical Allele Identifier: CA412613321
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1697301
ClinVar RCV Id: RCV002267683
dbSNP Id: rs2147324296
gnomAD v4: X-25013625-C-A
MyVariant Identifiers: chrX:g.25031742C>A (hg19) chrX:g.25013625C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013625C>A , CM000685.2:g.25013625C>A GRCh38
NC_000023.10:g.25031742C>A , CM000685.1:g.25031742C>A GRCh37
NC_000023.9:g.24941663C>A NCBI36
NG_008281.1:g.7324G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.370G>T MANE Select ENSP00000368332.4:p.Glu124Ter
ENST00000379044.4:c.370G>T ENSP00000368332.4:p.Glu124Ter
NM_139058.2:c.370G>T NP_620689.1:p.Glu124Ter
NM_139058.3:c.370G>T MANE Select NP_620689.1:p.Glu124Ter
Search 100 bp 5'
Search 100 bp 3'