Canonical Allele Identifier: CA412611463
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 645341
ClinVar RCV Id: RCV000799400
dbSNP Id: rs1601946603
gnomAD v4: X-25007333-G-T
MyVariant Identifiers: chrX:g.25025450G>T (hg19) chrX:g.25007333G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007333G>T , CM000685.2:g.25007333G>T GRCh38
NC_000023.10:g.25025450G>T , CM000685.1:g.25025450G>T GRCh37
NC_000023.9:g.24935371G>T NCBI36
NG_008281.1:g.13616C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1226C>A MANE Select ENSP00000368332.4:p.Pro409Gln
ENST00000379044.4:c.1226C>A ENSP00000368332.4:p.Pro409Gln
NM_139058.2:c.1226C>A NP_620689.1:p.Pro409Gln
NM_139058.3:c.1226C>A MANE Select NP_620689.1:p.Pro409Gln
Search 100 bp 5'
Search 100 bp 3'