Canonical Allele Identifier: CA2693352367
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004583-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004583G>A , CM000685.2:g.25004583G>A GRCh38
NC_000023.10:g.25022700G>A , CM000685.1:g.25022700G>A GRCh37
NC_000023.9:g.24932621G>A NCBI36
NG_008281.1:g.16366C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.*87C>T MANE Select ENSP00000368332.4:n.*87C>T
ENST00000379044.4:c.*87C>T ENSP00000368332.4:n.*87C>T
NM_139058.2:c.*87C>T NP_620689.1:n.*87C>T
NM_139058.3:c.*87C>T MANE Select NP_620689.1:n.*87C>T
Search 100 bp 5'
Search 100 bp 3'