Canonical Allele Identifier: CA412610883
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004861-G-A
MyVariant Identifiers: chrX:g.25022978G>A (hg19) chrX:g.25004861G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004861G>A , CM000685.2:g.25004861G>A GRCh38
NC_000023.10:g.25022978G>A , CM000685.1:g.25022978G>A GRCh37
NC_000023.9:g.24932899G>A NCBI36
NG_008281.1:g.16088C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1498C>T MANE Select ENSP00000368332.4:p.Leu500Phe
ENST00000636885.1:n.86C>T
ENST00000379044.4:c.1498C>T ENSP00000368332.4:p.Leu500Phe
NM_139058.2:c.1498C>T NP_620689.1:p.Leu500Phe
NM_139058.3:c.1498C>T MANE Select NP_620689.1:p.Leu500Phe
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