Canonical Allele Identifier: CA515747779
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048669025
gnomAD v4: X-25004694-G-A
MyVariant Identifiers: chrX:g.25022811G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004694G>A , CM000685.2:g.25004694G>A GRCh38
NC_000023.10:g.25022811G>A , CM000685.1:g.25022811G>A GRCh37
NC_000023.9:g.24932732G>A NCBI36
NG_008281.1:g.16255C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1665C>T MANE Select ENSP00000368332.4:p.Thr555=
ENST00000379044.4:c.1665C>T ENSP00000368332.4:p.Thr555=
NM_139058.2:c.1665C>T NP_620689.1:p.Thr555=
NM_139058.3:c.1665C>T MANE Select NP_620689.1:p.Thr555=
Search 100 bp 5'
Search 100 bp 3'