Canonical Allele Identifier: CA2820110290
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010250T>C , CM000685.2:g.25010250T>C GRCh38
NC_000023.10:g.25028367T>C , CM000685.1:g.25028367T>C GRCh37
NC_000023.9:g.24938288T>C NCBI36
NG_008281.1:g.10699A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+10A>G MANE Select ENSP00000368332.4:n.1119+10A>G
ENST00000379044.4:c.1119+10A>G ENSP00000368332.4:n.1119+10A>G
NM_139058.2:c.1119+10A>G NP_620689.1:n.1119+10A>G
NM_139058.3:c.1119+10A>G MANE Select NP_620689.1:n.1119+10A>G
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