Canonical Allele Identifier: CA515947840
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031725T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013608T>C , CM000685.2:g.25013608T>C GRCh38
NC_000023.10:g.25031725T>C , CM000685.1:g.25031725T>C GRCh37
NC_000023.9:g.24941646T>C NCBI36
NG_008281.1:g.7341A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.387A>G MANE Select ENSP00000368332.4:p.Pro129=
ENST00000379044.4:c.387A>G ENSP00000368332.4:p.Pro129=
NM_139058.2:c.387A>G NP_620689.1:p.Pro129=
NM_139058.3:c.387A>G MANE Select NP_620689.1:p.Pro129=