Canonical Allele Identifier: CA2693352378
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004595-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004595C>A , CM000685.2:g.25004595C>A GRCh38
NC_000023.10:g.25022712C>A , CM000685.1:g.25022712C>A GRCh37
NC_000023.9:g.24932633C>A NCBI36
NG_008281.1:g.16354G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.*75G>T MANE Select ENSP00000368332.4:n.*75G>T
ENST00000379044.4:c.*75G>T ENSP00000368332.4:n.*75G>T
NM_139058.2:c.*75G>T NP_620689.1:n.*75G>T
NM_139058.3:c.*75G>T MANE Select NP_620689.1:n.*75G>T
Search 100 bp 5'
Search 100 bp 3'