Canonical Allele Identifier: CA327732401

Gene: ARX

Linked Data

• dbSNP Id: rs981926512
• gnomAD v3: X-25004612-G-T
• gnomAD v4: X-25004612-G-T
• MyVariant Identifiers: chrX:g.25022729G>T (hg19) ; chrX:g.25004612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004612G>T , CM000685.2:g.25004612G>T	GRCh38
NC_000023.10:g.25022729G>T , CM000685.1:g.25022729G>T	GRCh37
NC_000023.9:g.24932650G>T	NCBI36
NG_008281.1:g.16337C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.*58C>A MANE Select	ENSP00000368332.4:n.*58C>A
ENST00000379044.4:c.*58C>A	ENSP00000368332.4:n.*58C>A
NM_139058.2:c.*58C>A	NP_620689.1:n.*58C>A
NM_139058.3:c.*58C>A MANE Select	NP_620689.1:n.*58C>A