Canonical Allele Identifier: CA515948293
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031569G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013452G>C , CM000685.2:g.25013452G>C GRCh38
NC_000023.10:g.25031569G>C , CM000685.1:g.25031569G>C GRCh37
NC_000023.9:g.24941490G>C NCBI36
NG_008281.1:g.7497C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.543C>G MANE Select ENSP00000368332.4:p.Pro181=
ENST00000379044.4:c.543C>G ENSP00000368332.4:p.Pro181=
NM_139058.2:c.543C>G NP_620689.1:p.Pro181=
NM_139058.3:c.543C>G MANE Select NP_620689.1:p.Pro181=