Canonical Allele Identifier: CA412611888
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012952T>C , CM000685.2:g.25012952T>C GRCh38
NC_000023.10:g.25031069T>C , CM000685.1:g.25031069T>C GRCh37
NC_000023.9:g.24940990T>C NCBI36
NG_008281.1:g.7997A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1043A>G MANE Select ENSP00000368332.4:p.Gln348Arg
ENST00000379044.4:c.1043A>G ENSP00000368332.4:p.Gln348Arg
NM_139058.2:c.1043A>G NP_620689.1:p.Gln348Arg
NM_139058.3:c.1043A>G MANE Select NP_620689.1:p.Gln348Arg