Canonical Allele Identifier: CA327732400
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs186187643
gnomAD v2: X-25022706-C-T
gnomAD v3: X-25004589-C-T
gnomAD v4: X-25004589-C-T
MyVariant Identifiers: chrX:g.25022706C>T (hg19) chrX:g.25004589C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004589C>T , CM000685.2:g.25004589C>T GRCh38
NC_000023.10:g.25022706C>T , CM000685.1:g.25022706C>T GRCh37
NC_000023.9:g.24932627C>T NCBI36
NG_008281.1:g.16360G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.*81G>A MANE Select ENSP00000368332.4:n.*81G>A
ENST00000379044.4:c.*81G>A ENSP00000368332.4:n.*81G>A
NM_139058.2:c.*81G>A NP_620689.1:n.*81G>A
NM_139058.3:c.*81G>A MANE Select NP_620689.1:n.*81G>A
Search 100 bp 5'
Search 100 bp 3'