Canonical Allele Identifier: CA412612542
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013261T>G , CM000685.2:g.25013261T>G GRCh38
NC_000023.10:g.25031378T>G , CM000685.1:g.25031378T>G GRCh37
NC_000023.9:g.24941299T>G NCBI36
NG_008281.1:g.7688A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.734A>C MANE Select ENSP00000368332.4:p.Glu245Ala
ENST00000379044.4:c.734A>C ENSP00000368332.4:p.Glu245Ala
NM_139058.2:c.734A>C NP_620689.1:p.Glu245Ala
NM_139058.3:c.734A>C MANE Select NP_620689.1:p.Glu245Ala