Canonical Allele Identifier: CA412612443
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013216A>C , CM000685.2:g.25013216A>C GRCh38
NC_000023.10:g.25031333A>C , CM000685.1:g.25031333A>C GRCh37
NC_000023.9:g.24941254A>C NCBI36
NG_008281.1:g.7733T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.779T>G MANE Select ENSP00000368332.4:p.Leu260Arg
ENST00000379044.4:c.779T>G ENSP00000368332.4:p.Leu260Arg
NM_139058.2:c.779T>G NP_620689.1:p.Leu260Arg
NM_139058.3:c.779T>G MANE Select NP_620689.1:p.Leu260Arg