Canonical Allele Identifier: CA412611556
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25007379-G-A
MyVariant Identifiers: chrX:g.25025496G>A (hg19) chrX:g.25007379G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007379G>A , CM000685.2:g.25007379G>A GRCh38
NC_000023.10:g.25025496G>A , CM000685.1:g.25025496G>A GRCh37
NC_000023.9:g.24935417G>A NCBI36
NG_008281.1:g.13570C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1180C>T MANE Select ENSP00000368332.4:p.His394Tyr
ENST00000379044.4:c.1180C>T ENSP00000368332.4:p.His394Tyr
NM_139058.2:c.1180C>T NP_620689.1:p.His394Tyr
NM_139058.3:c.1180C>T MANE Select NP_620689.1:p.His394Tyr
Search 100 bp 5'
Search 100 bp 3'