Canonical Allele Identifier: CA10373889

Gene: ARX

Linked Data

• ClinVar Variation Id: 596210
• ClinVar RCV Id: RCV002067127
• dbSNP Id: rs755317735
• ExAC: X:25031455 A / G
• gnomAD v2: X-25031455-A-G
• gnomAD v3: X-25013338-A-G
• gnomAD v4: X-25013338-A-G
• MyVariant Identifiers: chrX:g.25031455A>G (hg19) ; chrX:g.25013338A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013338A>G , CM000685.2:g.25013338A>G	GRCh38
NC_000023.10:g.25031455A>G , CM000685.1:g.25031455A>G	GRCh37
NC_000023.9:g.24941376A>G	NCBI36
NG_008281.1:g.7611T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.657T>C MANE Select	ENSP00000368332.4:p.Gly219=
ENST00000379044.4:c.657T>C	ENSP00000368332.4:p.Gly219=
NM_139058.2:c.657T>C	NP_620689.1:p.Gly219=
NM_139058.3:c.657T>C MANE Select	NP_620689.1:p.Gly219=