Canonical Allele Identifier: CA412612069

Gene: ARX

Linked Data

• dbSNP Id: rs1480734816
• gnomAD v2: X-25031152-C-A
• gnomAD v4: X-25013035-C-A
• MyVariant Identifiers: chrX:g.25031152C>A (hg19) ; chrX:g.25013035C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013035C>A , CM000685.2:g.25013035C>A	GRCh38
NC_000023.10:g.25031152C>A , CM000685.1:g.25031152C>A	GRCh37
NC_000023.9:g.24941073C>A	NCBI36
NG_008281.1:g.7914G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.960G>T MANE Select	ENSP00000368332.4:p.Glu320Asp
ENST00000379044.4:c.960G>T	ENSP00000368332.4:p.Glu320Asp
NM_139058.2:c.960G>T	NP_620689.1:p.Glu320Asp
NM_139058.3:c.960G>T MANE Select	NP_620689.1:p.Glu320Asp