Canonical Allele Identifier: CA10588763
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 265040
dbSNP Id: rs886039308

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013006C>T , CM000685.2:g.25013006C>T GRCh38
NC_000023.10:g.25031123C>T , CM000685.1:g.25031123C>T GRCh37
NC_000023.9:g.24941044C>T NCBI36
NG_008281.1:g.7943G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.989G>A MANE Select ENSP00000368332.4:p.Arg330His
ENST00000379044.4:c.989G>A ENSP00000368332.4:p.Arg330His
NM_139058.2:c.989G>A NP_620689.1:p.Arg330His
NM_139058.3:c.989G>A MANE Select NP_620689.1:p.Arg330His