Canonical Allele Identifier: CA412612929

Gene: ARX

Linked Data

• dbSNP Id: rs1131691410
• gnomAD v3: X-25013444-G-T
• gnomAD v4: X-25013444-G-T
• MyVariant Identifiers: chrX:g.25031561G>T (hg19) ; chrX:g.25013444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013444G>T , CM000685.2:g.25013444G>T	GRCh38
NC_000023.10:g.25031561G>T , CM000685.1:g.25031561G>T	GRCh37
NC_000023.9:g.24941482G>T	NCBI36
NG_008281.1:g.7505C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.551C>A MANE Select	ENSP00000368332.4:p.Pro184Gln
ENST00000379044.4:c.551C>A	ENSP00000368332.4:p.Pro184Gln
NM_139058.2:c.551C>A	NP_620689.1:p.Pro184Gln
NM_139058.3:c.551C>A MANE Select	NP_620689.1:p.Pro184Gln