Canonical Allele Identifier: CA412613196
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013564G>C , CM000685.2:g.25013564G>C GRCh38
NC_000023.10:g.25031681G>C , CM000685.1:g.25031681G>C GRCh37
NC_000023.9:g.24941602G>C NCBI36
NG_008281.1:g.7385C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.431C>G MANE Select ENSP00000368332.4:p.Ala144Gly
ENST00000379044.4:c.431C>G ENSP00000368332.4:p.Ala144Gly
NM_139058.2:c.431C>G NP_620689.1:p.Ala144Gly
NM_139058.3:c.431C>G MANE Select NP_620689.1:p.Ala144Gly