Canonical Allele Identifier: CA1131755475
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1601946423
gnomAD v3: X-25006933-A-C
gnomAD v4: X-25006933-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25006933A>C , CM000685.2:g.25006933A>C GRCh38
NC_000023.10:g.25025050A>C , CM000685.1:g.25025050A>C GRCh37
NC_000023.9:g.24934971A>C NCBI36
NG_008281.1:g.14016T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+178T>G MANE Select ENSP00000368332.4:n.1448+178T>G
ENST00000637993.1:c.61+178T>G
ENST00000379044.4:c.1448+178T>G ENSP00000368332.4:n.1448+178T>G
NM_139058.2:c.1448+178T>G NP_620689.1:n.1448+178T>G
NM_139058.3:c.1448+178T>G MANE Select NP_620689.1:n.1448+178T>G
Search 100 bp 5'
Search 100 bp 3'