Canonical Allele Identifier: CA641006232
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1237417029
gnomAD v2: X-25028327-A-C
gnomAD v3: X-25010210-A-C
gnomAD v4: X-25010210-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010210A>C , CM000685.2:g.25010210A>C GRCh38
NC_000023.10:g.25028327A>C , CM000685.1:g.25028327A>C GRCh37
NC_000023.9:g.24938248A>C NCBI36
NG_008281.1:g.10739T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+50T>G MANE Select ENSP00000368332.4:n.1119+50T>G
ENST00000379044.4:c.1119+50T>G ENSP00000368332.4:n.1119+50T>G
NM_139058.2:c.1119+50T>G NP_620689.1:n.1119+50T>G
NM_139058.3:c.1119+50T>G MANE Select NP_620689.1:n.1119+50T>G