Canonical Allele Identifier: CA2420210133
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015657G= , CM000685.2:g.25015657G= GRCh38
NC_000023.10:g.25033774G= , CM000685.1:g.25033774G= GRCh37
NC_000023.9:g.24943695G= NCBI36
NG_008281.1:g.5292C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.81C= MANE Select ENSP00000368332.4:p.Tyr27=
ENST00000636609.1:n.36-12C=
ENST00000637394.1:n.68-12C=
ENST00000379044.4:c.81C= ENSP00000368332.4:p.Tyr27=
NM_139058.2:c.81C= NP_620689.1:p.Tyr27=
NM_139058.3:c.81C= MANE Select NP_620689.1:p.Tyr27=