Canonical Allele Identifier: CA412613866
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25033740A>T (hg19) chrX:g.25015623A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015623A>T , CM000685.2:g.25015623A>T GRCh38
NC_000023.10:g.25033740A>T , CM000685.1:g.25033740A>T GRCh37
NC_000023.9:g.24943661A>T NCBI36
NG_008281.1:g.5326T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.115T>A MANE Select ENSP00000368332.4:p.Cys39Ser
ENST00000636609.1:n.58T>A
ENST00000637394.1:n.90T>A
ENST00000379044.4:c.115T>A ENSP00000368332.4:p.Cys39Ser
NM_139058.2:c.115T>A NP_620689.1:p.Cys39Ser
NM_139058.3:c.115T>A MANE Select NP_620689.1:p.Cys39Ser
Search 100 bp 5'
Search 100 bp 3'