Canonical Allele Identifier: CA412613683

Gene: ARX

Linked Data

• gnomAD v4: X-25013800-T-C
• MyVariant Identifiers: chrX:g.25031917T>C (hg19) ; chrX:g.25013800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013800T>C , CM000685.2:g.25013800T>C	GRCh38
NC_000023.10:g.25031917T>C , CM000685.1:g.25031917T>C	GRCh37
NC_000023.9:g.24941838T>C	NCBI36
NG_008281.1:g.7149A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.197-2A>G MANE Select	ENSP00000368332.4:n.197-2A>G
ENST00000379044.4:c.197-2A>G	ENSP00000368332.4:n.197-2A>G
NM_139058.2:c.197-2A>G	NP_620689.1:n.197-2A>G
NM_139058.3:c.197-2A>G MANE Select	NP_620689.1:n.197-2A>G