Canonical Allele Identifier: CA515947684
Gene: ARX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.25013545G>T
GRCh37 chrX:g.25031662G>T
gnomAD v2:
X:25031662 G / T
gnomAD v3:
X:25013545 G / T
gnomAD v4:
chrX-25013545-G-T
Joint Max Group AF 0.00000322 (NFE)
Exomes Max Group AF 0.00000348 (NFE)
ClinVar RCV:
RCV000543512
ClinVar Variation:
473010
dbSNP:
1410039382
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013545G>T , CM000685.2:g.25013545G>T GRCh38
NC_000023.10:g.25031662G>T , CM000685.1:g.25031662G>T GRCh37
NC_000023.9:g.24941583G>T NCBI36
NG_008281.1:g.7404C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.450C>A MANE Select ENSP00000368332.4:p.Ala150=
ENST00000379044.4:c.450C>A ENSP00000368332.4:p.Ala150=
NM_139058.2:c.450C>A NP_620689.1:p.Ala150=
NM_139058.3:c.450C>A MANE Select NP_620689.1:p.Ala150=
Search 100 bp 5'
Search 100 bp 3'