Canonical Allele Identifier: CA412611051

Gene: ARX

Linked Data

• MyVariant Identifiers: chrX:g.25025253C>A (hg19) ; chrX:g.25007136C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007136C>A , CM000685.2:g.25007136C>A	GRCh38
NC_000023.10:g.25025253C>A , CM000685.1:g.25025253C>A	GRCh37
NC_000023.9:g.24935174C>A	NCBI36
NG_008281.1:g.13813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1423G>T MANE Select	ENSP00000368332.4:p.Ala475Ser
ENST00000637993.1:c.36G>T
ENST00000379044.4:c.1423G>T	ENSP00000368332.4:p.Ala475Ser
NM_139058.2:c.1423G>T	NP_620689.1:p.Ala475Ser
NM_139058.3:c.1423G>T MANE Select	NP_620689.1:p.Ala475Ser