Canonical Allele Identifier: CA412612345
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs751858511
gnomAD v3: X-25013163-C-A
gnomAD v4: X-25013163-C-A
MyVariant Identifiers: chrX:g.25031280C>A (hg19) chrX:g.25013163C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013163C>A , CM000685.2:g.25013163C>A GRCh38
NC_000023.10:g.25031280C>A , CM000685.1:g.25031280C>A GRCh37
NC_000023.9:g.24941201C>A NCBI36
NG_008281.1:g.7786G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.832G>T MANE Select ENSP00000368332.4:p.Ala278Ser
ENST00000379044.4:c.832G>T ENSP00000368332.4:p.Ala278Ser
NM_139058.2:c.832G>T NP_620689.1:p.Ala278Ser
NM_139058.3:c.832G>T MANE Select NP_620689.1:p.Ala278Ser
Search 100 bp 5'
Search 100 bp 3'