Canonical Allele Identifier: CA1131756174
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048695287
gnomAD v3: X-25010040-G-A
gnomAD v4: X-25010040-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010040G>A , CM000685.2:g.25010040G>A GRCh38
NC_000023.10:g.25028157G>A , CM000685.1:g.25028157G>A GRCh37
NC_000023.9:g.24938078G>A NCBI36
NG_008281.1:g.10909C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+220C>T MANE Select ENSP00000368332.4:n.1119+220C>T
ENST00000379044.4:c.1119+220C>T ENSP00000368332.4:n.1119+220C>T
NM_139058.2:c.1119+220C>T NP_620689.1:n.1119+220C>T
NM_139058.3:c.1119+220C>T MANE Select NP_620689.1:n.1119+220C>T
Search 100 bp 5'
Search 100 bp 3'