Canonical Allele Identifier: CA412613601
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013765-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013765G>A , CM000685.2:g.25013765G>A GRCh38
NC_000023.10:g.25031882G>A , CM000685.1:g.25031882G>A GRCh37
NC_000023.9:g.24941803G>A NCBI36
NG_008281.1:g.7184C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.230C>T MANE Select ENSP00000368332.4:p.Ala77Val
ENST00000379044.4:c.230C>T ENSP00000368332.4:p.Ala77Val
NM_139058.2:c.230C>T NP_620689.1:p.Ala77Val
NM_139058.3:c.230C>T MANE Select NP_620689.1:p.Ala77Val