Canonical Allele Identifier: CA2693352435
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2932151
ClinVar RCV Id: RCV003795365
gnomAD v4: X-25004920-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004920G>A , CM000685.2:g.25004920G>A GRCh38
NC_000023.10:g.25023037G>A , CM000685.1:g.25023037G>A GRCh37
NC_000023.9:g.24932958G>A NCBI36
NG_008281.1:g.16029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1449-10C>T MANE Select ENSP00000368332.4:n.1449-10C>T
ENST00000636885.1:n.37-10C>T
ENST00000379044.4:c.1449-10C>T ENSP00000368332.4:n.1449-10C>T
NM_139058.2:c.1449-10C>T NP_620689.1:n.1449-10C>T
NM_139058.3:c.1449-10C>T MANE Select NP_620689.1:n.1449-10C>T
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