Canonical Allele Identifier: CA515947603
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031380C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013263C>G , CM000685.2:g.25013263C>G GRCh38
NC_000023.10:g.25031380C>G , CM000685.1:g.25031380C>G GRCh37
NC_000023.9:g.24941301C>G NCBI36
NG_008281.1:g.7686G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.732G>C MANE Select ENSP00000368332.4:p.Leu244=
ENST00000379044.4:c.732G>C ENSP00000368332.4:p.Leu244=
NM_139058.2:c.732G>C NP_620689.1:p.Leu244=
NM_139058.3:c.732G>C MANE Select NP_620689.1:p.Leu244=