Canonical Allele Identifier: CA412613378
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031771G>T (hg19) chrX:g.25013654G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013654G>T , CM000685.2:g.25013654G>T GRCh38
NC_000023.10:g.25031771G>T , CM000685.1:g.25031771G>T GRCh37
NC_000023.9:g.24941692G>T NCBI36
NG_008281.1:g.7295C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.341C>A MANE Select ENSP00000368332.4:p.Ala114Asp
ENST00000379044.4:c.341C>A ENSP00000368332.4:p.Ala114Asp
NM_139058.2:c.341C>A NP_620689.1:p.Ala114Asp
NM_139058.3:c.341C>A MANE Select NP_620689.1:p.Ala114Asp
Search 100 bp 5'
Search 100 bp 3'