Canonical Allele Identifier: CA412612547
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2072402
ClinVar RCV Id: RCV002962887

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013264A>G , CM000685.2:g.25013264A>G GRCh38
NC_000023.10:g.25031381A>G , CM000685.1:g.25031381A>G GRCh37
NC_000023.9:g.24941302A>G NCBI36
NG_008281.1:g.7685T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.731T>C MANE Select ENSP00000368332.4:p.Leu244Pro
ENST00000379044.4:c.731T>C ENSP00000368332.4:p.Leu244Pro
NM_139058.2:c.731T>C NP_620689.1:p.Leu244Pro
NM_139058.3:c.731T>C MANE Select NP_620689.1:p.Leu244Pro