Canonical Allele Identifier: CA874142087

Gene: ARX

Linked Data

• dbSNP Id: rs1363545438
• MyVariant Identifiers: chrX:g.25023134C>G (hg19) ; chrX:g.25005017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25005017C>G , CM000685.2:g.25005017C>G	GRCh38
NC_000023.10:g.25023134C>G , CM000685.1:g.25023134C>G	GRCh37
NC_000023.9:g.24933055C>G	NCBI36
NG_008281.1:g.15932G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1449-107G>C MANE Select	ENSP00000368332.4:n.1449-107G>C
ENST00000636885.1:n.37-107G>C
ENST00000379044.4:c.1449-107G>C	ENSP00000368332.4:n.1449-107G>C
NM_139058.2:c.1449-107G>C	NP_620689.1:n.1449-107G>C
NM_139058.3:c.1449-107G>C MANE Select	NP_620689.1:n.1449-107G>C