Canonical Allele Identifier: CA2580100534
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2033931
ClinVar RCV Id: RCV002872748
gnomAD v4: X-25013803-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013803G>A , CM000685.2:g.25013803G>A GRCh38
NC_000023.10:g.25031920G>A , CM000685.1:g.25031920G>A GRCh37
NC_000023.9:g.24941841G>A NCBI36
NG_008281.1:g.7146C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.197-5C>T MANE Select ENSP00000368332.4:n.197-5C>T
ENST00000379044.4:c.197-5C>T ENSP00000368332.4:n.197-5C>T
NM_139058.2:c.197-5C>T NP_620689.1:n.197-5C>T
NM_139058.3:c.197-5C>T MANE Select NP_620689.1:n.197-5C>T
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