Canonical Allele Identifier: CA327733028
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1005563217
gnomAD v3: X-25012782-T-C
gnomAD v4: X-25012782-T-C
MyVariant Identifiers: chrX:g.25030899T>C (hg19) chrX:g.25012782T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012782T>C , CM000685.2:g.25012782T>C GRCh38
NC_000023.10:g.25030899T>C , CM000685.1:g.25030899T>C GRCh37
NC_000023.9:g.24940820T>C NCBI36
NG_008281.1:g.8167A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+140A>G MANE Select ENSP00000368332.4:n.1073+140A>G
ENST00000379044.4:c.1073+140A>G ENSP00000368332.4:n.1073+140A>G
NM_139058.2:c.1073+140A>G NP_620689.1:n.1073+140A>G
NM_139058.3:c.1073+140A>G MANE Select NP_620689.1:n.1073+140A>G
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