Canonical Allele Identifier: CA16608407
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 383533
dbSNP Id: rs104894746

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1105G>A MANE Select ENSP00000368332.4:p.Glu369Lys
ENST00000379044.4:c.1105G>A ENSP00000368332.4:p.Glu369Lys
NM_139058.2:c.1105G>A NP_620689.1:p.Glu369Lys
NM_139058.3:c.1105G>A MANE Select NP_620689.1:p.Glu369Lys