Canonical Allele Identifier: CA412610956

Gene: ARX

Linked Data

• MyVariant Identifiers: chrX:g.25023016G>T (hg19) ; chrX:g.25004899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004899G>T , CM000685.2:g.25004899G>T	GRCh38
NC_000023.10:g.25023016G>T , CM000685.1:g.25023016G>T	GRCh37
NC_000023.9:g.24932937G>T	NCBI36
NG_008281.1:g.16050C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1460C>A MANE Select	ENSP00000368332.4:p.Thr487Lys
ENST00000636885.1:n.48C>A
ENST00000379044.4:c.1460C>A	ENSP00000368332.4:p.Thr487Lys
NM_139058.2:c.1460C>A	NP_620689.1:p.Thr487Lys
NM_139058.3:c.1460C>A MANE Select	NP_620689.1:p.Thr487Lys