Canonical Allele Identifier: CA412613034

Gene: ARX

Linked Data

• gnomAD v4: X-25013489-A-G
• MyVariant Identifiers: chrX:g.25031606A>G (hg19) ; chrX:g.25013489A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013489A>G , CM000685.2:g.25013489A>G	GRCh38
NC_000023.10:g.25031606A>G , CM000685.1:g.25031606A>G	GRCh37
NC_000023.9:g.24941527A>G	NCBI36
NG_008281.1:g.7460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.506T>C MANE Select	ENSP00000368332.4:p.Ile169Thr
ENST00000379044.4:c.506T>C	ENSP00000368332.4:p.Ile169Thr
NM_139058.2:c.506T>C	NP_620689.1:p.Ile169Thr
NM_139058.3:c.506T>C MANE Select	NP_620689.1:p.Ile169Thr