Canonical Allele Identifier: CA515947168
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031155C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013038C>T , CM000685.2:g.25013038C>T GRCh38
NC_000023.10:g.25031155C>T , CM000685.1:g.25031155C>T GRCh37
NC_000023.9:g.24941076C>T NCBI36
NG_008281.1:g.7911G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.957G>A MANE Select ENSP00000368332.4:p.Ser319=
ENST00000379044.4:c.957G>A ENSP00000368332.4:p.Ser319=
NM_139058.2:c.957G>A NP_620689.1:p.Ser319=
NM_139058.3:c.957G>A MANE Select NP_620689.1:p.Ser319=