Canonical Allele Identifier: CA412613362
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1436403865
gnomAD v3: X-25013646-C-G
gnomAD v4: X-25013646-C-G
MyVariant Identifiers: chrX:g.25031763C>G (hg19) chrX:g.25013646C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013646C>G , CM000685.2:g.25013646C>G GRCh38
NC_000023.10:g.25031763C>G , CM000685.1:g.25031763C>G GRCh37
NC_000023.9:g.24941684C>G NCBI36
NG_008281.1:g.7303G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.349G>C MANE Select ENSP00000368332.4:p.Ala117Pro
ENST00000379044.4:c.349G>C ENSP00000368332.4:p.Ala117Pro
NM_139058.2:c.349G>C NP_620689.1:p.Ala117Pro
NM_139058.3:c.349G>C MANE Select NP_620689.1:p.Ala117Pro
Search 100 bp 5'
Search 100 bp 3'