Canonical Allele Identifier: CA515947615
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031385G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013268G>A , CM000685.2:g.25013268G>A GRCh38
NC_000023.10:g.25031385G>A , CM000685.1:g.25031385G>A GRCh37
NC_000023.9:g.24941306G>A NCBI36
NG_008281.1:g.7681C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.727C>T MANE Select ENSP00000368332.4:p.Leu243=
ENST00000379044.4:c.727C>T ENSP00000368332.4:p.Leu243=
NM_139058.2:c.727C>T NP_620689.1:p.Leu243=
NM_139058.3:c.727C>T MANE Select NP_620689.1:p.Leu243=