Canonical Allele Identifier: CA412613168
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2388446
ClinVar RCV Id: RCV002729876
gnomAD v4: X-25013549-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013549G>T , CM000685.2:g.25013549G>T GRCh38
NC_000023.10:g.25031666G>T , CM000685.1:g.25031666G>T GRCh37
NC_000023.9:g.24941587G>T NCBI36
NG_008281.1:g.7400C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.446C>A MANE Select ENSP00000368332.4:p.Ala149Glu
ENST00000379044.4:c.446C>A ENSP00000368332.4:p.Ala149Glu
NM_139058.2:c.446C>A NP_620689.1:p.Ala149Glu
NM_139058.3:c.446C>A MANE Select NP_620689.1:p.Ala149Glu