Canonical Allele Identifier: CA412612497
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031360A>C (hg19) chrX:g.25013243A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013243A>C , CM000685.2:g.25013243A>C GRCh38
NC_000023.10:g.25031360A>C , CM000685.1:g.25031360A>C GRCh37
NC_000023.9:g.24941281A>C NCBI36
NG_008281.1:g.7706T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.752T>G MANE Select ENSP00000368332.4:p.Leu251Arg
ENST00000379044.4:c.752T>G ENSP00000368332.4:p.Leu251Arg
NM_139058.2:c.752T>G NP_620689.1:p.Leu251Arg
NM_139058.3:c.752T>G MANE Select NP_620689.1:p.Leu251Arg
Search 100 bp 5'
Search 100 bp 3'