Canonical Allele Identifier: CA2420209060
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012935C= , CM000685.2:g.25012935C= GRCh38
NC_000023.10:g.25031052C= , CM000685.1:g.25031052C= GRCh37
NC_000023.9:g.24940973C= NCBI36
NG_008281.1:g.8014G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1060G= MANE Select ENSP00000368332.4:p.Asp354=
ENST00000379044.4:c.1060G= ENSP00000368332.4:p.Asp354=
NM_139058.2:c.1060G= NP_620689.1:p.Asp354=
NM_139058.3:c.1060G= MANE Select NP_620689.1:p.Asp354=