Canonical Allele Identifier: CA515947431
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031323G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013206G>A , CM000685.2:g.25013206G>A GRCh38
NC_000023.10:g.25031323G>A , CM000685.1:g.25031323G>A GRCh37
NC_000023.9:g.24941244G>A NCBI36
NG_008281.1:g.7743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.789C>T MANE Select ENSP00000368332.4:p.Pro263=
ENST00000379044.4:c.789C>T ENSP00000368332.4:p.Pro263=
NM_139058.2:c.789C>T NP_620689.1:p.Pro263=
NM_139058.3:c.789C>T MANE Select NP_620689.1:p.Pro263=