Canonical Allele Identifier: CA412610670
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25022873G>T (hg19) chrX:g.25004756G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004756G>T , CM000685.2:g.25004756G>T GRCh38
NC_000023.10:g.25022873G>T , CM000685.1:g.25022873G>T GRCh37
NC_000023.9:g.24932794G>T NCBI36
NG_008281.1:g.16193C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1603C>A MANE Select ENSP00000368332.4:p.Leu535Met
ENST00000379044.4:c.1603C>A ENSP00000368332.4:p.Leu535Met
NM_139058.2:c.1603C>A NP_620689.1:p.Leu535Met
NM_139058.3:c.1603C>A MANE Select NP_620689.1:p.Leu535Met
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Search 100 bp 3'