Canonical Allele Identifier: CA515947089
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031080C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012963C>T , CM000685.2:g.25012963C>T GRCh38
NC_000023.10:g.25031080C>T , CM000685.1:g.25031080C>T GRCh37
NC_000023.9:g.24941001C>T NCBI36
NG_008281.1:g.7986G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1032G>A MANE Select ENSP00000368332.4:p.Glu344=
ENST00000379044.4:c.1032G>A ENSP00000368332.4:p.Glu344=
NM_139058.2:c.1032G>A NP_620689.1:p.Glu344=
NM_139058.3:c.1032G>A MANE Select NP_620689.1:p.Glu344=