Canonical Allele Identifier: CA2420205985
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004898T= , CM000685.2:g.25004898T= GRCh38
NC_000023.10:g.25023015T= , CM000685.1:g.25023015T= GRCh37
NC_000023.9:g.24932936T= NCBI36
NG_008281.1:g.16051A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1461A= MANE Select ENSP00000368332.4:p.Thr487=
ENST00000636885.1:n.49A=
ENST00000379044.4:c.1461A= ENSP00000368332.4:p.Thr487=
NM_139058.2:c.1461A= NP_620689.1:p.Thr487=
NM_139058.3:c.1461A= MANE Select NP_620689.1:p.Thr487=