Canonical Allele Identifier: CA412611793
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1458712270
COSMIC: COSM3844399
MyVariant Identifiers: chrX:g.25028418C>G (hg19) chrX:g.25010301C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010301C>G , CM000685.2:g.25010301C>G GRCh38
NC_000023.10:g.25028418C>G , CM000685.1:g.25028418C>G GRCh37
NC_000023.9:g.24938339C>G NCBI36
NG_008281.1:g.10648G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1078G>C MANE Select ENSP00000368332.4:p.Glu360Gln
ENST00000379044.4:c.1078G>C ENSP00000368332.4:p.Glu360Gln
NM_139058.2:c.1078G>C NP_620689.1:p.Glu360Gln
NM_139058.3:c.1078G>C MANE Select NP_620689.1:p.Glu360Gln
Search 100 bp 5'
Search 100 bp 3'