Canonical Allele Identifier: CA412612548
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013264A>T , CM000685.2:g.25013264A>T GRCh38
NC_000023.10:g.25031381A>T , CM000685.1:g.25031381A>T GRCh37
NC_000023.9:g.24941302A>T NCBI36
NG_008281.1:g.7685T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.731T>A MANE Select ENSP00000368332.4:p.Leu244Gln
ENST00000379044.4:c.731T>A ENSP00000368332.4:p.Leu244Gln
NM_139058.2:c.731T>A NP_620689.1:p.Leu244Gln
NM_139058.3:c.731T>A MANE Select NP_620689.1:p.Leu244Gln