Canonical Allele Identifier: CA2563882608
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004643G>C , CM000685.2:g.25004643G>C GRCh38
NC_000023.10:g.25022760G>C , CM000685.1:g.25022760G>C GRCh37
NC_000023.9:g.24932681G>C NCBI36
NG_008281.1:g.16306C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.*27C>G MANE Select ENSP00000368332.4:n.*27C>G
ENST00000379044.4:c.*27C>G ENSP00000368332.4:n.*27C>G
NM_139058.2:c.*27C>G NP_620689.1:n.*27C>G
NM_139058.3:c.*27C>G MANE Select NP_620689.1:n.*27C>G