Canonical Allele Identifier: CA2693353788
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013833-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013833G>A , CM000685.2:g.25013833G>A GRCh38
NC_000023.10:g.25031950G>A , CM000685.1:g.25031950G>A GRCh37
NC_000023.9:g.24941871G>A NCBI36
NG_008281.1:g.7116C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.197-35C>T MANE Select ENSP00000368332.4:n.197-35C>T
ENST00000379044.4:c.197-35C>T ENSP00000368332.4:n.197-35C>T
NM_139058.2:c.197-35C>T NP_620689.1:n.197-35C>T
NM_139058.3:c.197-35C>T MANE Select NP_620689.1:n.197-35C>T
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