Canonical Allele Identifier: CA10373896
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs751826445
ExAC: X:25031644 CCAGGCCGCGGCG / C
MyVariant Identifiers: chrX:g.25031645_25031656del (hg19) chrX:g.25013528_25013539del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013528_25013539del , CM000685.2:g.25013528_25013539del GRCh38
NC_000023.10:g.25031645_25031656del , CM000685.1:g.25031645_25031656del GRCh37
NC_000023.9:g.24941566_24941577del NCBI36
NG_008281.1:g.7410_7421del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.456_467del MANE Select ENSP00000368332.4:p.Ala153_Trp156del
ENST00000379044.4:c.456_467del ENSP00000368332.4:p.Ala153_Trp156del
NM_139058.2:c.456_467del NP_620689.1:p.Ala153_Trp156del
NM_139058.3:c.456_467del MANE Select NP_620689.1:p.Ala153_Trp156del
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