Canonical Allele Identifier: CA515947705

Gene: ARX

Linked Data

• ClinVar Variation Id: 588540
• ClinVar RCV Id: RCV000867206 ; RCV002313482 ; RCV002512127
• dbSNP Id: rs797045301
• gnomAD v2: X-25031671-T-G
• gnomAD v3: X-25013554-T-G
• gnomAD v4: X-25013554-T-G
• MyVariant Identifiers: chrX:g.25031671T>G (hg19) ; chrX:g.25013554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013554T>G , CM000685.2:g.25013554T>G	GRCh38
NC_000023.10:g.25031671T>G , CM000685.1:g.25031671T>G	GRCh37
NC_000023.9:g.24941592T>G	NCBI36
NG_008281.1:g.7395A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.441A>C MANE Select	ENSP00000368332.4:p.Ala147=
ENST00000379044.4:c.441A>C	ENSP00000368332.4:p.Ala147=
NM_139058.2:c.441A>C	NP_620689.1:p.Ala147=
NM_139058.3:c.441A>C MANE Select	NP_620689.1:p.Ala147=