Canonical Allele Identifier: CA121412
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 11201
ClinVar RCV Id: RCV000011952
dbSNP Id: rs104894746
gnomAD v4: X-25010274-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010274C>A , CM000685.2:g.25010274C>A GRCh38
NC_000023.10:g.25028391C>A , CM000685.1:g.25028391C>A GRCh37
NC_000023.9:g.24938312C>A NCBI36
NG_008281.1:g.10675G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1105G>T MANE Select ENSP00000368332.4:p.Glu369Ter
ENST00000379044.4:c.1105G>T ENSP00000368332.4:p.Glu369Ter
NM_139058.2:c.1105G>T NP_620689.1:p.Glu369Ter
NM_139058.3:c.1105G>T MANE Select NP_620689.1:p.Glu369Ter