Canonical Allele Identifier: CA515947121
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1231915817
gnomAD v3: X-25013014-T-C
gnomAD v4: X-25013014-T-C
MyVariant Identifiers: chrX:g.25031131T>C (hg19) chrX:g.25013014T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013014T>C , CM000685.2:g.25013014T>C GRCh38
NC_000023.10:g.25031131T>C , CM000685.1:g.25031131T>C GRCh37
NC_000023.9:g.24941052T>C NCBI36
NG_008281.1:g.7935A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.981A>G MANE Select ENSP00000368332.4:p.Lys327=
ENST00000379044.4:c.981A>G ENSP00000368332.4:p.Lys327=
NM_139058.2:c.981A>G NP_620689.1:p.Lys327=
NM_139058.3:c.981A>G MANE Select NP_620689.1:p.Lys327=
Search 100 bp 5'
Search 100 bp 3'