Canonical Allele Identifier: CA412610798

Gene: ARX

Linked Data

• gnomAD v4: X-25004819-A-G
• MyVariant Identifiers: chrX:g.25022936A>G (hg19) ; chrX:g.25004819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004819A>G , CM000685.2:g.25004819A>G	GRCh38
NC_000023.10:g.25022936A>G , CM000685.1:g.25022936A>G	GRCh37
NC_000023.9:g.24932857A>G	NCBI36
NG_008281.1:g.16130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1540T>C MANE Select	ENSP00000368332.4:p.Ser514Pro
ENST00000379044.4:c.1540T>C	ENSP00000368332.4:p.Ser514Pro
NM_139058.2:c.1540T>C	NP_620689.1:p.Ser514Pro
NM_139058.3:c.1540T>C MANE Select	NP_620689.1:p.Ser514Pro