Canonical Allele Identifier: CA874145161
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1170239226
gnomAD v3: X-25010220-A-C
gnomAD v4: X-25010220-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010220A>C , CM000685.2:g.25010220A>C GRCh38
NC_000023.10:g.25028337A>C , CM000685.1:g.25028337A>C GRCh37
NC_000023.9:g.24938258A>C NCBI36
NG_008281.1:g.10729T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+40T>G MANE Select ENSP00000368332.4:n.1119+40T>G
ENST00000379044.4:c.1119+40T>G ENSP00000368332.4:n.1119+40T>G
NM_139058.2:c.1119+40T>G NP_620689.1:n.1119+40T>G
NM_139058.3:c.1119+40T>G MANE Select NP_620689.1:n.1119+40T>G