Canonical Allele Identifier: CA515748131
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25022988G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004871G>T , CM000685.2:g.25004871G>T GRCh38
NC_000023.10:g.25022988G>T , CM000685.1:g.25022988G>T GRCh37
NC_000023.9:g.24932909G>T NCBI36
NG_008281.1:g.16078C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1488C>A MANE Select ENSP00000368332.4:p.Thr496=
ENST00000636885.1:n.76C>A
ENST00000379044.4:c.1488C>A ENSP00000368332.4:p.Thr496=
NM_139058.2:c.1488C>A NP_620689.1:p.Thr496=
NM_139058.3:c.1488C>A MANE Select NP_620689.1:p.Thr496=