Canonical Allele Identifier: CA412613863
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25033739C>T (hg19) chrX:g.25015622C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015622C>T , CM000685.2:g.25015622C>T GRCh38
NC_000023.10:g.25033739C>T , CM000685.1:g.25033739C>T GRCh37
NC_000023.9:g.24943660C>T NCBI36
NG_008281.1:g.5327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.116G>A MANE Select ENSP00000368332.4:p.Cys39Tyr
ENST00000636609.1:n.59G>A
ENST00000637394.1:n.91G>A
ENST00000379044.4:c.116G>A ENSP00000368332.4:p.Cys39Tyr
NM_139058.2:c.116G>A NP_620689.1:p.Cys39Tyr
NM_139058.3:c.116G>A MANE Select NP_620689.1:p.Cys39Tyr
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