Canonical Allele Identifier: CA10373818
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1506607
ClinVar RCV Id: RCV002036037
dbSNP Id: rs776061068
ExAC: X:25025365 GGCGGCGGCGGCA / G
gnomAD v2: X-25025365-GGCGGCGGCGGCA-G
gnomAD v4: X-25007248-GGCGGCGGCGGCA-G
MyVariant Identifiers: chrX:g.25025366_25025377del (hg19) chrX:g.25007249_25007260del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007254_25007265del , CM000685.2:g.25007254_25007265del GRCh38
NC_000023.10:g.25025371_25025382del , CM000685.1:g.25025371_25025382del GRCh37
NC_000023.9:g.24935292_24935303del NCBI36
NG_008281.1:g.13689_13700del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1299_1310del MANE Select ENSP00000368332.4:p.Ala434_Ala437del
ENST00000379044.4:c.1299_1310del ENSP00000368332.4:p.Ala434_Ala437del
NM_139058.2:c.1299_1310del NP_620689.1:p.Ala434_Ala437del
NM_139058.3:c.1299_1310del MANE Select NP_620689.1:p.Ala434_Ala437del
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Search 100 bp 3'