Canonical Allele Identifier: CA515749945
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25033741C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015624C>T , CM000685.2:g.25015624C>T GRCh38
NC_000023.10:g.25033741C>T , CM000685.1:g.25033741C>T GRCh37
NC_000023.9:g.24943662C>T NCBI36
NG_008281.1:g.5325G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.114G>A MANE Select ENSP00000368332.4:p.Pro38=
ENST00000636609.1:n.57G>A
ENST00000637394.1:n.89G>A
ENST00000379044.4:c.114G>A ENSP00000368332.4:p.Pro38=
NM_139058.2:c.114G>A NP_620689.1:p.Pro38=
NM_139058.3:c.114G>A MANE Select NP_620689.1:p.Pro38=