Canonical Allele Identifier: CA2820110299

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010313A>C , CM000685.2:g.25010313A>C	GRCh38
NC_000023.10:g.25028430A>C , CM000685.1:g.25028430A>C	GRCh37
NC_000023.9:g.24938351A>C	NCBI36
NG_008281.1:g.10636T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1074-8T>G MANE Select	ENSP00000368332.4:n.1074-8T>G
ENST00000379044.4:c.1074-8T>G	ENSP00000368332.4:n.1074-8T>G
NM_139058.2:c.1074-8T>G	NP_620689.1:n.1074-8T>G
NM_139058.3:c.1074-8T>G MANE Select	NP_620689.1:n.1074-8T>G