Canonical Allele Identifier: CA2420208979
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048707403
gnomAD v4: X-25012789-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012789G>C , CM000685.2:g.25012789G>C GRCh38
NC_000023.10:g.25030906G>C , CM000685.1:g.25030906G>C GRCh37
NC_000023.9:g.24940827G>C NCBI36
NG_008281.1:g.8160C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1073+133C>G MANE Select ENSP00000368332.4:n.1073+133C>G
ENST00000379044.4:c.1073+133C>G ENSP00000368332.4:n.1073+133C>G
NM_139058.2:c.1073+133C>G NP_620689.1:n.1073+133C>G
NM_139058.3:c.1073+133C>G MANE Select NP_620689.1:n.1073+133C>G
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