Canonical Allele Identifier: CA515947404
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25007392-T-C
MyVariant Identifiers: chrX:g.25025509T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007392T>C , CM000685.2:g.25007392T>C GRCh38
NC_000023.10:g.25025509T>C , CM000685.1:g.25025509T>C GRCh37
NC_000023.9:g.24935430T>C NCBI36
NG_008281.1:g.13557A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1167A>G MANE Select ENSP00000368332.4:p.Ala389=
ENST00000379044.4:c.1167A>G ENSP00000368332.4:p.Ala389=
NM_139058.2:c.1167A>G NP_620689.1:p.Ala389=
NM_139058.3:c.1167A>G MANE Select NP_620689.1:p.Ala389=
Search 100 bp 5'
Search 100 bp 3'