Canonical Allele Identifier: CA412613508
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013718-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013718C>G , CM000685.2:g.25013718C>G GRCh38
NC_000023.10:g.25031835C>G , CM000685.1:g.25031835C>G GRCh37
NC_000023.9:g.24941756C>G NCBI36
NG_008281.1:g.7231G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.277G>C MANE Select ENSP00000368332.4:p.Gly93Arg
ENST00000379044.4:c.277G>C ENSP00000368332.4:p.Gly93Arg
NM_139058.2:c.277G>C NP_620689.1:p.Gly93Arg
NM_139058.3:c.277G>C MANE Select NP_620689.1:p.Gly93Arg