Canonical Allele Identifier: CA515947233
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031197C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013080C>T , CM000685.2:g.25013080C>T GRCh38
NC_000023.10:g.25031197C>T , CM000685.1:g.25031197C>T GRCh37
NC_000023.9:g.24941118C>T NCBI36
NG_008281.1:g.7869G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.915G>A MANE Select ENSP00000368332.4:p.Lys305=
ENST00000379044.4:c.915G>A ENSP00000368332.4:p.Lys305=
NM_139058.2:c.915G>A NP_620689.1:p.Lys305=
NM_139058.3:c.915G>A MANE Select NP_620689.1:p.Lys305=