Canonical Allele Identifier: CA412610759

Gene: ARX

Linked Data

• dbSNP Id: rs1215788781
• gnomAD v2: X-25022917-G-A
• gnomAD v4: X-25004800-G-A
• MyVariant Identifiers: chrX:g.25022917G>A (hg19) ; chrX:g.25004800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004800G>A , CM000685.2:g.25004800G>A	GRCh38
NC_000023.10:g.25022917G>A , CM000685.1:g.25022917G>A	GRCh37
NC_000023.9:g.24932838G>A	NCBI36
NG_008281.1:g.16149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1559C>T MANE Select	ENSP00000368332.4:p.Pro520Leu
ENST00000379044.4:c.1559C>T	ENSP00000368332.4:p.Pro520Leu
NM_139058.2:c.1559C>T	NP_620689.1:p.Pro520Leu
NM_139058.3:c.1559C>T MANE Select	NP_620689.1:p.Pro520Leu