Canonical Allele Identifier: CA327733029
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1038439680
gnomAD v3: X-25012795-C-T
gnomAD v4: X-25012795-C-T
MyVariant Identifiers: chrX:g.25030912C>T (hg19) chrX:g.25012795C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012795C>T , CM000685.2:g.25012795C>T GRCh38
NC_000023.10:g.25030912C>T , CM000685.1:g.25030912C>T GRCh37
NC_000023.9:g.24940833C>T NCBI36
NG_008281.1:g.8154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+127G>A MANE Select ENSP00000368332.4:n.1073+127G>A
ENST00000379044.4:c.1073+127G>A ENSP00000368332.4:n.1073+127G>A
NM_139058.2:c.1073+127G>A NP_620689.1:n.1073+127G>A
NM_139058.3:c.1073+127G>A MANE Select NP_620689.1:n.1073+127G>A
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