Canonical Allele Identifier: CA245473

Gene: ARX

Linked Data

• ClinVar Variation Id: 197372
• ClinVar RCV Id: RCV000650183 ; RCV000724610 ; RCV002317048
• dbSNP Id: rs794727656
• gnomAD v2: X-25025407-G-A
• gnomAD v3: X-25007290-G-A
• gnomAD v4: X-25007290-G-A
• MyVariant Identifiers: chrX:g.25025407G>A (hg19) ; chrX:g.25007290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007290G>A , CM000685.2:g.25007290G>A	GRCh38
NC_000023.10:g.25025407G>A , CM000685.1:g.25025407G>A	GRCh37
NC_000023.9:g.24935328G>A	NCBI36
NG_008281.1:g.13659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1269C>T MANE Select	ENSP00000368332.4:p.His423=
ENST00000379044.4:c.1269C>T	ENSP00000368332.4:p.His423=
NM_139058.2:c.1269C>T	NP_620689.1:p.His423=
NM_139058.3:c.1269C>T MANE Select	NP_620689.1:p.His423=