Canonical Allele Identifier: CA641364656
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 3047773
ClinVar RCV Id: RCV003949684
dbSNP Id: rs1440215809
gnomAD v2: X-25022782-A-C
gnomAD v3: X-25004665-A-C
gnomAD v4: X-25004665-A-C
MyVariant Identifiers: chrX:g.25022782A>C (hg19) chrX:g.25004665A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004665A>C , CM000685.2:g.25004665A>C GRCh38
NC_000023.10:g.25022782A>C , CM000685.1:g.25022782A>C GRCh37
NC_000023.9:g.24932703A>C NCBI36
NG_008281.1:g.16284T>G

Transcript Alleles

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