Canonical Allele Identifier: CA2420209163
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013222G= , CM000685.2:g.25013222G= GRCh38
NC_000023.10:g.25031339G= , CM000685.1:g.25031339G= GRCh37
NC_000023.9:g.24941260G= NCBI36
NG_008281.1:g.7727C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.773C= MANE Select ENSP00000368332.4:p.Ala258=
ENST00000379044.4:c.773C= ENSP00000368332.4:p.Ala258=
NM_139058.2:c.773C= NP_620689.1:p.Ala258=
NM_139058.3:c.773C= MANE Select NP_620689.1:p.Ala258=