Canonical Allele Identifier: CA10373859
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1633104
ClinVar RCV Id: RCV002121608
dbSNP Id: rs370974597
ExAC: X:25031085 G / A
gnomAD v2: X-25031085-G-A
gnomAD v4: X-25012968-G-A
MyVariant Identifiers: chrX:g.25031085G>A (hg19) chrX:g.25012968G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012968G>A , CM000685.2:g.25012968G>A GRCh38
NC_000023.10:g.25031085G>A , CM000685.1:g.25031085G>A GRCh37
NC_000023.9:g.24941006G>A NCBI36
NG_008281.1:g.7981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1027C>T MANE Select ENSP00000368332.4:p.Leu343=
ENST00000379044.4:c.1027C>T ENSP00000368332.4:p.Leu343=
NM_139058.2:c.1027C>T NP_620689.1:p.Leu343=
NM_139058.3:c.1027C>T MANE Select NP_620689.1:p.Leu343=
Search 100 bp 5'
Search 100 bp 3'