Canonical Allele Identifier: CA2550038879
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013718del , CM000685.2:g.25013718del GRCh38
NC_000023.10:g.25031835del , CM000685.1:g.25031835del GRCh37
NC_000023.9:g.24941756del NCBI36
NG_008281.1:g.7235del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.281del MANE Select ENSP00000368332.4:p.Gly94AlafsTer?
ENST00000379044.4:c.281del ENSP00000368332.4:p.Gly94AlafsTer?
NM_139058.2:c.281del NP_620689.1:p.Gly94AlafsTer?
NM_139058.3:c.281del MANE Select NP_620689.1:p.Gly94AlafsTer?