Canonical Allele Identifier: CA412613036
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013490-T-C
MyVariant Identifiers: chrX:g.25031607T>C (hg19) chrX:g.25013490T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013490T>C , CM000685.2:g.25013490T>C GRCh38
NC_000023.10:g.25031607T>C , CM000685.1:g.25031607T>C GRCh37
NC_000023.9:g.24941528T>C NCBI36
NG_008281.1:g.7459A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.505A>G MANE Select ENSP00000368332.4:p.Ile169Val
ENST00000379044.4:c.505A>G ENSP00000368332.4:p.Ile169Val
NM_139058.2:c.505A>G NP_620689.1:p.Ile169Val
NM_139058.3:c.505A>G MANE Select NP_620689.1:p.Ile169Val
Search 100 bp 5'
Search 100 bp 3'