Canonical Allele Identifier: CA16616659

Gene: ARX

Linked Data

• ClinVar Variation Id: 410778
• ClinVar RCV Id: RCV000470846
• dbSNP Id: rs1060503040
• MyVariant Identifiers: chrX:g.25031071G>C (hg19) ; chrX:g.25012954G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25012954G>C , CM000685.2:g.25012954G>C	GRCh38
NC_000023.10:g.25031071G>C , CM000685.1:g.25031071G>C	GRCh37
NC_000023.9:g.24940992G>C	NCBI36
NG_008281.1:g.7995C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1041C>G MANE Select	ENSP00000368332.4:p.Phe347Leu
ENST00000379044.4:c.1041C>G	ENSP00000368332.4:p.Phe347Leu
NM_139058.2:c.1041C>G	NP_620689.1:p.Phe347Leu
NM_139058.3:c.1041C>G MANE Select	NP_620689.1:p.Phe347Leu