Canonical Allele Identifier: CA874144961
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1236909004
gnomAD v3: X-25010076-AT-A
gnomAD v4: X-25010076-AT-A
MyVariant Identifiers: chrX:g.25028194del (hg19) chrX:g.25010077del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010077del , CM000685.2:g.25010077del GRCh38
NC_000023.10:g.25028194del , CM000685.1:g.25028194del GRCh37
NC_000023.9:g.24938115del NCBI36
NG_008281.1:g.10872del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+183del MANE Select ENSP00000368332.4:n.1119+183del
ENST00000379044.4:c.1119+183del ENSP00000368332.4:n.1119+183del
NM_139058.2:c.1119+183del NP_620689.1:n.1119+183del
NM_139058.3:c.1119+183del MANE Select NP_620689.1:n.1119+183del
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