Canonical Allele Identifier: CA412613873
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015627G>C , CM000685.2:g.25015627G>C GRCh38
NC_000023.10:g.25033744G>C , CM000685.1:g.25033744G>C GRCh37
NC_000023.9:g.24943665G>C NCBI36
NG_008281.1:g.5322C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.111C>G MANE Select ENSP00000368332.4:p.Ser37Arg
ENST00000636609.1:n.54C>G
ENST00000637394.1:n.86C>G
ENST00000379044.4:c.111C>G ENSP00000368332.4:p.Ser37Arg
NM_139058.2:c.111C>G NP_620689.1:p.Ser37Arg
NM_139058.3:c.111C>G MANE Select NP_620689.1:p.Ser37Arg