Canonical Allele Identifier: CA515749096
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2954106
ClinVar RCV Id: RCV003813329
gnomAD v4: X-25013719-G-A
MyVariant Identifiers: chrX:g.25031836G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013719G>A , CM000685.2:g.25013719G>A GRCh38
NC_000023.10:g.25031836G>A , CM000685.1:g.25031836G>A GRCh37
NC_000023.9:g.24941757G>A NCBI36
NG_008281.1:g.7230C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.276C>T MANE Select ENSP00000368332.4:p.Gly92=
ENST00000379044.4:c.276C>T ENSP00000368332.4:p.Gly92=
NM_139058.2:c.276C>T NP_620689.1:p.Gly92=
NM_139058.3:c.276C>T MANE Select NP_620689.1:p.Gly92=