Canonical Allele Identifier: CA412611561
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25025498G>C (hg19) chrX:g.25007381G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007381G>C , CM000685.2:g.25007381G>C GRCh38
NC_000023.10:g.25025498G>C , CM000685.1:g.25025498G>C GRCh37
NC_000023.9:g.24935419G>C NCBI36
NG_008281.1:g.13568C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1178C>G MANE Select ENSP00000368332.4:p.Thr393Ser
ENST00000379044.4:c.1178C>G ENSP00000368332.4:p.Thr393Ser
NM_139058.2:c.1178C>G NP_620689.1:p.Thr393Ser
NM_139058.3:c.1178C>G MANE Select NP_620689.1:p.Thr393Ser
Search 100 bp 5'
Search 100 bp 3'