Canonical Allele Identifier: CA213171

Gene: ARX

Identifiers and link-outs to other resources

• ClinVar Variation Id: 11197
• ClinVar RCV Id: RCV000011948
• dbSNP Id: rs104894741
• MyVariant Identifiers: chrX:g.25031084A>T (hg19) ; chrX:g.25012967A>T (hg38)
• PubMed: PMID:12379852 ; PMID:22252899

User contributed link-outs

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25012967A>T , CM000685.2:g.25012967A>T	GRCh38
NC_000023.10:g.25031084A>T , CM000685.1:g.25031084A>T	GRCh37
NC_000023.9:g.24941005A>T	NCBI36
NG_008281.1:g.7982T>A

Transcript Alleles

HGVS	Amino-acid change
NM_139058.2:c.1028T>A VV	NP_620689.1:p.Leu343Gln
NM_139058.3:c.1028T>A VV MANE Preferred	NP_620689.1:p.Leu343Gln
ENST00000379044.4:c.1028T>A	ENSP00000368332.4:p.Leu343Gln