Canonical Allele Identifier: CA10373884

Gene: ARX

Linked Data

• ClinVar Variation Id: 1216161
• ClinVar RCV Id: RCV001593824 ; RCV001866194
• dbSNP Id: rs765259012
• ExAC: X:25031373 C / G
• gnomAD v2: X-25031373-C-G
• gnomAD v4: X-25013256-C-G
• MyVariant Identifiers: chrX:g.25031373C>G (hg19) ; chrX:g.25013256C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013256C>G , CM000685.2:g.25013256C>G	GRCh38
NC_000023.10:g.25031373C>G , CM000685.1:g.25031373C>G	GRCh37
NC_000023.9:g.24941294C>G	NCBI36
NG_008281.1:g.7693G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.739G>C MANE Select	ENSP00000368332.4:p.Asp247His
ENST00000379044.4:c.739G>C	ENSP00000368332.4:p.Asp247His
NM_139058.2:c.739G>C	NP_620689.1:p.Asp247His
NM_139058.3:c.739G>C MANE Select	NP_620689.1:p.Asp247His