Canonical Allele Identifier: CA2693353333
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25012892-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012892G>C , CM000685.2:g.25012892G>C GRCh38
NC_000023.10:g.25031009G>C , CM000685.1:g.25031009G>C GRCh37
NC_000023.9:g.24940930G>C NCBI36
NG_008281.1:g.8057C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+30C>G MANE Select ENSP00000368332.4:n.1073+30C>G
ENST00000379044.4:c.1073+30C>G ENSP00000368332.4:n.1073+30C>G
NM_139058.2:c.1073+30C>G NP_620689.1:n.1073+30C>G
NM_139058.3:c.1073+30C>G MANE Select NP_620689.1:n.1073+30C>G
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