Canonical Allele Identifier: CA10373778
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1010226
ClinVar RCV Id: RCV001307820 RCV002393731
dbSNP Id: rs752807804
ExAC: X:25023005 G / T
gnomAD v2: X-25023005-G-T
gnomAD v3: X-25004888-G-T
gnomAD v4: X-25004888-G-T
MyVariant Identifiers: chrX:g.25023005G>T (hg19) chrX:g.25004888G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004888G>T , CM000685.2:g.25004888G>T GRCh38
NC_000023.10:g.25023005G>T , CM000685.1:g.25023005G>T GRCh37
NC_000023.9:g.24932926G>T NCBI36
NG_008281.1:g.16061C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1471C>A MANE Select ENSP00000368332.4:p.Leu491Met
ENST00000636885.1:n.59C>A
ENST00000379044.4:c.1471C>A ENSP00000368332.4:p.Leu491Met
NM_139058.2:c.1471C>A NP_620689.1:p.Leu491Met
NM_139058.3:c.1471C>A MANE Select NP_620689.1:p.Leu491Met
Search 100 bp 5'
Search 100 bp 3'