Canonical Allele Identifier: CA1131756869
Gene: ARX HGNC NCBI

Linked Data

gnomAD v3: X-25012755-T-A
gnomAD v4: X-25012755-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012755T>A , CM000685.2:g.25012755T>A GRCh38
NC_000023.10:g.25030872T>A , CM000685.1:g.25030872T>A GRCh37
NC_000023.9:g.24940793T>A NCBI36
NG_008281.1:g.8194A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+167A>T MANE Select ENSP00000368332.4:n.1073+167A>T
ENST00000379044.4:c.1073+167A>T ENSP00000368332.4:n.1073+167A>T
NM_139058.2:c.1073+167A>T NP_620689.1:n.1073+167A>T
NM_139058.3:c.1073+167A>T MANE Select NP_620689.1:n.1073+167A>T