Canonical Allele Identifier: CA2693353677
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25010210-A-G
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+50T>C MANE Select ENSP00000368332.4:n.1119+50T>C
ENST00000379044.4:c.1119+50T>C ENSP00000368332.4:n.1119+50T>C
NM_139058.2:c.1119+50T>C NP_620689.1:n.1119+50T>C
NM_139058.3:c.1119+50T>C MANE Select NP_620689.1:n.1119+50T>C
Search 100 bp 5'
Search 100 bp 3'