Canonical Allele Identifier: CA327732819
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2074002
gnomAD v2: X-25028297-C-T
gnomAD v3: X-25010180-C-T
gnomAD v4: X-25010180-C-T

Genomic Alleles

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

Transcript Alleles

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