Canonical Allele Identifier: CA327733023
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs746914590
gnomAD v2: X-25030859-G-A
gnomAD v3: X-25012742-G-A
gnomAD v4: X-25012742-G-A
MyVariant Identifiers: chrX:g.25030859G>A (hg19) chrX:g.25012742G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012742G>A , CM000685.2:g.25012742G>A GRCh38
NC_000023.10:g.25030859G>A , CM000685.1:g.25030859G>A GRCh37
NC_000023.9:g.24940780G>A NCBI36
NG_008281.1:g.8207C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+180C>T MANE Select ENSP00000368332.4:n.1073+180C>T
ENST00000379044.4:c.1073+180C>T ENSP00000368332.4:n.1073+180C>T
NM_139058.2:c.1073+180C>T NP_620689.1:n.1073+180C>T
NM_139058.3:c.1073+180C>T MANE Select NP_620689.1:n.1073+180C>T
Search 100 bp 5'
Search 100 bp 3'