Canonical Allele Identifier: CA412612957

Gene: ARX

Linked Data

• dbSNP Id: rs2048711586
• MyVariant Identifiers: chrX:g.25031574C>G (hg19) ; chrX:g.25013457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013457C>G , CM000685.2:g.25013457C>G	GRCh38
NC_000023.10:g.25031574C>G , CM000685.1:g.25031574C>G	GRCh37
NC_000023.9:g.24941495C>G	NCBI36
NG_008281.1:g.7492G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.538G>C MANE Select	ENSP00000368332.4:p.Ala180Pro
ENST00000379044.4:c.538G>C	ENSP00000368332.4:p.Ala180Pro
NM_139058.2:c.538G>C	NP_620689.1:p.Ala180Pro
NM_139058.3:c.538G>C MANE Select	NP_620689.1:p.Ala180Pro