Canonical Allele Identifier: CA641364642
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1373398799
gnomAD v2: X-25022682-C-T
gnomAD v3: X-25004565-C-T
gnomAD v4: X-25004565-C-T
MyVariant Identifiers: chrX:g.25022682C>T (hg19) chrX:g.25004565C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004565C>T , CM000685.2:g.25004565C>T GRCh38
NC_000023.10:g.25022682C>T , CM000685.1:g.25022682C>T GRCh37
NC_000023.9:g.24932603C>T NCBI36
NG_008281.1:g.16384G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.*105G>A MANE Select ENSP00000368332.4:n.*105G>A
ENST00000379044.4:c.*105G>A ENSP00000368332.4:n.*105G>A
NM_139058.2:c.*105G>A NP_620689.1:n.*105G>A
NM_139058.3:c.*105G>A MANE Select NP_620689.1:n.*105G>A
Search 100 bp 5'
Search 100 bp 3'