Canonical Allele Identifier: CA515749106
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013722-C-A
MyVariant Identifiers: chrX:g.25031839C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013722C>A , CM000685.2:g.25013722C>A GRCh38
NC_000023.10:g.25031839C>A , CM000685.1:g.25031839C>A GRCh37
NC_000023.9:g.24941760C>A NCBI36
NG_008281.1:g.7227G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.273G>T MANE Select ENSP00000368332.4:p.Pro91=
ENST00000379044.4:c.273G>T ENSP00000368332.4:p.Pro91=
NM_139058.2:c.273G>T NP_620689.1:p.Pro91=
NM_139058.3:c.273G>T MANE Select NP_620689.1:p.Pro91=