Canonical Allele Identifier: CA2579637192
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004581-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004581C>T , CM000685.2:g.25004581C>T GRCh38
NC_000023.10:g.25022698C>T , CM000685.1:g.25022698C>T GRCh37
NC_000023.9:g.24932619C>T NCBI36
NG_008281.1:g.16368G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.*89G>A MANE Select ENSP00000368332.4:n.*89G>A
ENST00000379044.4:c.*89G>A ENSP00000368332.4:n.*89G>A
NM_139058.2:c.*89G>A NP_620689.1:n.*89G>A
NM_139058.3:c.*89G>A MANE Select NP_620689.1:n.*89G>A
Search 100 bp 5'
Search 100 bp 3'