Canonical Allele Identifier: CA327732816

Gene: ARX

Linked Data

• dbSNP Id: rs867799597
• gnomAD v2: X-25028293-A-C
• gnomAD v3: X-25010176-A-C
• gnomAD v4: X-25010176-A-C
• MyVariant Identifiers: chrX:g.25028293A>C (hg19) ; chrX:g.25028293_25028294delinsCC (hg19) ; chrX:g.25010176A>C (hg38) ; chrX:g.25010176_25010177delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010176A>C , CM000685.2:g.25010176A>C	GRCh38
NC_000023.10:g.25028293A>C , CM000685.1:g.25028293A>C	GRCh37
NC_000023.9:g.24938214A>C	NCBI36
NG_008281.1:g.10773T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1119+84T>G MANE Select	ENSP00000368332.4:n.1119+84T>G
ENST00000379044.4:c.1119+84T>G	ENSP00000368332.4:n.1119+84T>G
NM_139058.2:c.1119+84T>G	NP_620689.1:n.1119+84T>G
NM_139058.3:c.1119+84T>G MANE Select	NP_620689.1:n.1119+84T>G