Canonical Allele Identifier: CA171160

Gene: ARX

Linked Data

• ClinVar Variation Id: 157761
• ClinVar RCV Id: RCV000145060 ; RCV000599952
• dbSNP Id: rs587783204
• gnomAD v4: X-25013344-C-A
• COSMIC: COSM4657464
• MyVariant Identifiers: chrX:g.25031461C>A (hg19) ; chrX:g.25013344C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013344C>A , CM000685.2:g.25013344C>A	GRCh38
NC_000023.10:g.25031461C>A , CM000685.1:g.25031461C>A	GRCh37
NC_000023.9:g.24941382C>A	NCBI36
NG_008281.1:g.7605G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.651G>T MANE Select	ENSP00000368332.4:p.Ala217=
ENST00000379044.4:c.651G>T	ENSP00000368332.4:p.Ala217=
NM_139058.2:c.651G>T	NP_620689.1:p.Ala217=
NM_139058.3:c.651G>T MANE Select	NP_620689.1:p.Ala217=