Canonical Allele Identifier: CA327732820
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs759354362
gnomAD v3: X-25010183-C-G
gnomAD v4: X-25010183-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010183C>G , CM000685.2:g.25010183C>G GRCh38
NC_000023.10:g.25028300C>G , CM000685.1:g.25028300C>G GRCh37
NC_000023.9:g.24938221C>G NCBI36
NG_008281.1:g.10766G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+77G>C MANE Select ENSP00000368332.4:n.1119+77G>C
ENST00000379044.4:c.1119+77G>C ENSP00000368332.4:n.1119+77G>C
NM_139058.2:c.1119+77G>C NP_620689.1:n.1119+77G>C
NM_139058.3:c.1119+77G>C MANE Select NP_620689.1:n.1119+77G>C