Canonical Allele Identifier: CA412611046

Gene: ARX

Linked Data

• MyVariant Identifiers: chrX:g.25025252G>A (hg19) ; chrX:g.25007135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007135G>A , CM000685.2:g.25007135G>A	GRCh38
NC_000023.10:g.25025252G>A , CM000685.1:g.25025252G>A	GRCh37
NC_000023.9:g.24935173G>A	NCBI36
NG_008281.1:g.13814C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1424C>T MANE Select	ENSP00000368332.4:p.Ala475Val
ENST00000637993.1:c.37C>T
ENST00000379044.4:c.1424C>T	ENSP00000368332.4:p.Ala475Val
NM_139058.2:c.1424C>T	NP_620689.1:p.Ala475Val
NM_139058.3:c.1424C>T MANE Select	NP_620689.1:p.Ala475Val