Canonical Allele Identifier: CA515947737
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2099750
ClinVar RCV Id: RCV003021869
gnomAD v4: X-25013563-G-A
MyVariant Identifiers: chrX:g.25031680G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013563G>A , CM000685.2:g.25013563G>A GRCh38
NC_000023.10:g.25031680G>A , CM000685.1:g.25031680G>A GRCh37
NC_000023.9:g.24941601G>A NCBI36
NG_008281.1:g.7386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.432C>T MANE Select ENSP00000368332.4:p.Ala144=
ENST00000379044.4:c.432C>T ENSP00000368332.4:p.Ala144=
NM_139058.2:c.432C>T NP_620689.1:p.Ala144=
NM_139058.3:c.432C>T MANE Select NP_620689.1:p.Ala144=
Search 100 bp 5'
Search 100 bp 3'