Canonical Allele Identifier: CA412612356
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1406403691
gnomAD v2: X-25031286-C-A
gnomAD v4: X-25013169-C-A
MyVariant Identifiers: chrX:g.25031286C>A (hg19) chrX:g.25013169C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013169C>A , CM000685.2:g.25013169C>A GRCh38
NC_000023.10:g.25031286C>A , CM000685.1:g.25031286C>A GRCh37
NC_000023.9:g.24941207C>A NCBI36
NG_008281.1:g.7780G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.826G>T MANE Select ENSP00000368332.4:p.Ala276Ser
ENST00000379044.4:c.826G>T ENSP00000368332.4:p.Ala276Ser
NM_139058.2:c.826G>T NP_620689.1:p.Ala276Ser
NM_139058.3:c.826G>T MANE Select NP_620689.1:p.Ala276Ser
Search 100 bp 5'
Search 100 bp 3'