Canonical Allele Identifier: CA657769476
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010193C>T , CM000685.2:g.25010193C>T GRCh38
NC_000023.10:g.25028310C>T , CM000685.1:g.25028310C>T GRCh37
NC_000023.9:g.24938231C>T NCBI36
NG_008281.1:g.10756G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+67G>A MANE Select ENSP00000368332.4:n.1119+67G>A
ENST00000379044.4:c.1119+67G>A ENSP00000368332.4:n.1119+67G>A
NM_139058.2:c.1119+67G>A NP_620689.1:n.1119+67G>A
NM_139058.3:c.1119+67G>A MANE Select NP_620689.1:n.1119+67G>A