Canonical Allele Identifier: CA641364662
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1451584449
gnomAD v2: X-25033651-A-G
gnomAD v3: X-25015534-A-G
gnomAD v4: X-25015534-A-G
MyVariant Identifiers: chrX:g.25033651A>G (hg19) chrX:g.25015534A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015534A>G , CM000685.2:g.25015534A>G GRCh38
NC_000023.10:g.25033651A>G , CM000685.1:g.25033651A>G GRCh37
NC_000023.9:g.24943572A>G NCBI36
NG_008281.1:g.5415T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.196+8T>C MANE Select ENSP00000368332.4:n.196+8T>C
ENST00000379044.4:c.196+8T>C ENSP00000368332.4:n.196+8T>C
NM_139058.2:c.196+8T>C NP_620689.1:n.196+8T>C
NM_139058.3:c.196+8T>C MANE Select NP_620689.1:n.196+8T>C
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