Canonical Allele Identifier: CA874145081
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2074002
gnomAD v3: X-25010180-C-A
gnomAD v4: X-25010180-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010180C>A , CM000685.2:g.25010180C>A GRCh38
NC_000023.10:g.25028297C>A , CM000685.1:g.25028297C>A GRCh37
NC_000023.9:g.24938218C>A NCBI36
NG_008281.1:g.10769G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+80G>T MANE Select ENSP00000368332.4:n.1119+80G>T
ENST00000379044.4:c.1119+80G>T ENSP00000368332.4:n.1119+80G>T
NM_139058.2:c.1119+80G>T NP_620689.1:n.1119+80G>T
NM_139058.3:c.1119+80G>T MANE Select NP_620689.1:n.1119+80G>T