Canonical Allele Identifier: CA412611722

Gene: ARX

Linked Data

• ClinVar Variation Id: 1339731
• ClinVar RCV Id: RCV001825119
• dbSNP Id: rs2147322042
• MyVariant Identifiers: chrX:g.25028384C>T (hg19) ; chrX:g.25010267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010267C>T , CM000685.2:g.25010267C>T	GRCh38
NC_000023.10:g.25028384C>T , CM000685.1:g.25028384C>T	GRCh37
NC_000023.9:g.24938305C>T	NCBI36
NG_008281.1:g.10682G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1112G>A MANE Select	ENSP00000368332.4:p.Arg371Gln
ENST00000379044.4:c.1112G>A	ENSP00000368332.4:p.Arg371Gln
NM_139058.2:c.1112G>A	NP_620689.1:p.Arg371Gln
NM_139058.3:c.1112G>A MANE Select	NP_620689.1:p.Arg371Gln