Canonical Allele Identifier: CA2420205943

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004808C= , CM000685.2:g.25004808C=	GRCh38
NC_000023.10:g.25022925C= , CM000685.1:g.25022925C=	GRCh37
NC_000023.9:g.24932846C=	NCBI36
NG_008281.1:g.16141G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1551G= MANE Select	ENSP00000368332.4:p.Leu517=
ENST00000379044.4:c.1551G=	ENSP00000368332.4:p.Leu517=
NM_139058.2:c.1551G=	NP_620689.1:p.Leu517=
NM_139058.3:c.1551G= MANE Select	NP_620689.1:p.Leu517=