Canonical Allele Identifier: CA412611458
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25025448G>A (hg19) chrX:g.25007331G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007331G>A , CM000685.2:g.25007331G>A GRCh38
NC_000023.10:g.25025448G>A , CM000685.1:g.25025448G>A GRCh37
NC_000023.9:g.24935369G>A NCBI36
NG_008281.1:g.13618C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1228C>T MANE Select ENSP00000368332.4:p.Leu410Phe
ENST00000379044.4:c.1228C>T ENSP00000368332.4:p.Leu410Phe
NM_139058.2:c.1228C>T NP_620689.1:p.Leu410Phe
NM_139058.3:c.1228C>T MANE Select NP_620689.1:p.Leu410Phe
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