Canonical Allele Identifier: CA412612579
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013277-C-T
COSMIC: COSM5691041
MyVariant Identifiers: chrX:g.25031394C>T (hg19) chrX:g.25013277C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013277C>T , CM000685.2:g.25013277C>T GRCh38
NC_000023.10:g.25031394C>T , CM000685.1:g.25031394C>T GRCh37
NC_000023.9:g.24941315C>T NCBI36
NG_008281.1:g.7672G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.718G>A MANE Select ENSP00000368332.4:p.Glu240Lys
ENST00000379044.4:c.718G>A ENSP00000368332.4:p.Glu240Lys
NM_139058.2:c.718G>A NP_620689.1:p.Glu240Lys
NM_139058.3:c.718G>A MANE Select NP_620689.1:p.Glu240Lys
Search 100 bp 5'
Search 100 bp 3'