Canonical Allele Identifier: CA2820100858
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013802C>G , CM000685.2:g.25013802C>G GRCh38
NC_000023.10:g.25031919C>G , CM000685.1:g.25031919C>G GRCh37
NC_000023.9:g.24941840C>G NCBI36
NG_008281.1:g.7147G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.197-4G>C MANE Select ENSP00000368332.4:n.197-4G>C
ENST00000379044.4:c.197-4G>C ENSP00000368332.4:n.197-4G>C
NM_139058.2:c.197-4G>C NP_620689.1:n.197-4G>C
NM_139058.3:c.197-4G>C MANE Select NP_620689.1:n.197-4G>C
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