Canonical Allele Identifier: CA412610866
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004852-G-C
MyVariant Identifiers: chrX:g.25022969G>C (hg19) chrX:g.25004852G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004852G>C , CM000685.2:g.25004852G>C GRCh38
NC_000023.10:g.25022969G>C , CM000685.1:g.25022969G>C GRCh37
NC_000023.9:g.24932890G>C NCBI36
NG_008281.1:g.16097C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1507C>G MANE Select ENSP00000368332.4:p.Gln503Glu
ENST00000379044.4:c.1507C>G ENSP00000368332.4:p.Gln503Glu
NM_139058.2:c.1507C>G NP_620689.1:p.Gln503Glu
NM_139058.3:c.1507C>G MANE Select NP_620689.1:p.Gln503Glu
Search 100 bp 5'
Search 100 bp 3'