Canonical Allele Identifier: CA412612522
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 810540
ClinVar RCV Id: RCV000999359
dbSNP Id: rs1601948443

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013253C>G , CM000685.2:g.25013253C>G GRCh38
NC_000023.10:g.25031370C>G , CM000685.1:g.25031370C>G GRCh37
NC_000023.9:g.24941291C>G NCBI36
NG_008281.1:g.7696G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.742G>C MANE Select ENSP00000368332.4:p.Glu248Gln
ENST00000379044.4:c.742G>C ENSP00000368332.4:p.Glu248Gln
NM_139058.2:c.742G>C NP_620689.1:p.Glu248Gln
NM_139058.3:c.742G>C MANE Select NP_620689.1:p.Glu248Gln