Canonical Allele Identifier: CA641364674
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1448625780
gnomAD v2: X-25023019-GA-G
gnomAD v4: X-25004902-GA-G
MyVariant Identifiers: chrX:g.25023020del (hg19) chrX:g.25004903del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004906del , CM000685.2:g.25004906del GRCh38
NC_000023.10:g.25023023del , CM000685.1:g.25023023del GRCh37
NC_000023.9:g.24932944del NCBI36
NG_008281.1:g.16046del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1456del MANE Select ENSP00000368332.4:p.Ser486ProfsTer6
ENST00000636885.1:n.44del
ENST00000379044.4:c.1456del ENSP00000368332.4:p.Ser486ProfsTer6
NM_139058.2:c.1456del NP_620689.1:p.Ser486ProfsTer6
NM_139058.3:c.1456del MANE Select NP_620689.1:p.Ser486ProfsTer6
Search 100 bp 5'
Search 100 bp 3'