Canonical Allele Identifier: CA412613878
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015629T>A , CM000685.2:g.25015629T>A GRCh38
NC_000023.10:g.25033746T>A , CM000685.1:g.25033746T>A GRCh37
NC_000023.9:g.24943667T>A NCBI36
NG_008281.1:g.5320A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.109A>T MANE Select ENSP00000368332.4:p.Ser37Cys
ENST00000636609.1:n.52A>T
ENST00000637394.1:n.84A>T
ENST00000379044.4:c.109A>T ENSP00000368332.4:p.Ser37Cys
NM_139058.2:c.109A>T NP_620689.1:p.Ser37Cys
NM_139058.3:c.109A>T MANE Select NP_620689.1:p.Ser37Cys