Canonical Allele Identifier: CA515748689
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25028397A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010280A>G , CM000685.2:g.25010280A>G GRCh38
NC_000023.10:g.25028397A>G , CM000685.1:g.25028397A>G GRCh37
NC_000023.9:g.24938318A>G NCBI36
NG_008281.1:g.10669T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1099T>C MANE Select ENSP00000368332.4:p.Leu367=
ENST00000379044.4:c.1099T>C ENSP00000368332.4:p.Leu367=
NM_139058.2:c.1099T>C NP_620689.1:p.Leu367=
NM_139058.3:c.1099T>C MANE Select NP_620689.1:p.Leu367=