Canonical Allele Identifier: CA2420209411
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013711C= , CM000685.2:g.25013711C= GRCh38
NC_000023.10:g.25031828C= , CM000685.1:g.25031828C= GRCh37
NC_000023.9:g.24941749C= NCBI36
NG_008281.1:g.7238G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.284G= MANE Select ENSP00000368332.4:p.Arg95=
ENST00000379044.4:c.284G= ENSP00000368332.4:p.Arg95=
NM_139058.2:c.284G= NP_620689.1:p.Arg95=
NM_139058.3:c.284G= MANE Select NP_620689.1:p.Arg95=