Canonical Allele Identifier: CA10373762
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs766012640
ExAC: X:25022768 C / T
gnomAD v2: X-25022768-C-T
gnomAD v4: X-25004651-C-T
MyVariant Identifiers: chrX:g.25022768C>T (hg19) chrX:g.25004651C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004651C>T , CM000685.2:g.25004651C>T GRCh38
NC_000023.10:g.25022768C>T , CM000685.1:g.25022768C>T GRCh37
NC_000023.9:g.24932689C>T NCBI36
NG_008281.1:g.16298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.*19G>A MANE Select ENSP00000368332.4:n.*19G>A
ENST00000379044.4:c.*19G>A ENSP00000368332.4:n.*19G>A
NM_139058.2:c.*19G>A NP_620689.1:n.*19G>A
NM_139058.3:c.*19G>A MANE Select NP_620689.1:n.*19G>A
Search 100 bp 5'
Search 100 bp 3'