Canonical Allele Identifier: CA10373851
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs757785751
ExAC: X:25031011 T / C
gnomAD v2: X-25031011-T-C
MyVariant Identifiers: chrX:g.25031011T>C (hg19) chrX:g.25012894T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012894T>C , CM000685.2:g.25012894T>C GRCh38
NC_000023.10:g.25031011T>C , CM000685.1:g.25031011T>C GRCh37
NC_000023.9:g.24940932T>C NCBI36
NG_008281.1:g.8055A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1073+28A>G MANE Select ENSP00000368332.4:n.1073+28A>G
ENST00000379044.4:c.1073+28A>G ENSP00000368332.4:n.1073+28A>G
NM_139058.2:c.1073+28A>G NP_620689.1:n.1073+28A>G
NM_139058.3:c.1073+28A>G MANE Select NP_620689.1:n.1073+28A>G
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