Canonical Allele Identifier: CA2420208003
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1434251734
gnomAD v4: X-25010195-A-ATC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010206_25010207dup , CM000685.2:g.25010206_25010207dup GRCh38
NC_000023.10:g.25028323_25028324dup , CM000685.1:g.25028323_25028324dup GRCh37
NC_000023.9:g.24938244_24938245dup NCBI36
NG_008281.1:g.10752_10753dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+63_1119+64dup MANE Select ENSP00000368332.4:n.1119+63_1119+64dup
ENST00000379044.4:c.1119+63_1119+64dup ENSP00000368332.4:n.1119+63_1119+64dup
NM_139058.2:c.1119+63_1119+64dup NP_620689.1:n.1119+63_1119+64dup
NM_139058.3:c.1119+63_1119+64dup MANE Select NP_620689.1:n.1119+63_1119+64dup
Search 100 bp 5'
Search 100 bp 3'