Canonical Allele Identifier: CA412610959

Gene: ARX

Linked Data

• MyVariant Identifiers: chrX:g.25023017T>A (hg19) ; chrX:g.25004900T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004900T>A , CM000685.2:g.25004900T>A	GRCh38
NC_000023.10:g.25023017T>A , CM000685.1:g.25023017T>A	GRCh37
NC_000023.9:g.24932938T>A	NCBI36
NG_008281.1:g.16049A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1459A>T MANE Select	ENSP00000368332.4:p.Thr487Ser
ENST00000636885.1:n.47A>T
ENST00000379044.4:c.1459A>T	ENSP00000368332.4:p.Thr487Ser
NM_139058.2:c.1459A>T	NP_620689.1:p.Thr487Ser
NM_139058.3:c.1459A>T MANE Select	NP_620689.1:p.Thr487Ser