Canonical Allele Identifier: CA874145054
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs762866252

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010182_25010183dup , CM000685.2:g.25010182_25010183dup GRCh38
NC_000023.10:g.25028299_25028300dup , CM000685.1:g.25028299_25028300dup GRCh37
NC_000023.9:g.24938220_24938221dup NCBI36
NG_008281.1:g.10771_10772dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+82_1119+83dup MANE Select ENSP00000368332.4:n.1119+82_1119+83dup
ENST00000379044.4:c.1119+82_1119+83dup ENSP00000368332.4:n.1119+82_1119+83dup
NM_139058.2:c.1119+82_1119+83dup NP_620689.1:n.1119+82_1119+83dup
NM_139058.3:c.1119+82_1119+83dup MANE Select NP_620689.1:n.1119+82_1119+83dup