Canonical Allele Identifier: CA515747834
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25022829G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004712G>A , CM000685.2:g.25004712G>A GRCh38
NC_000023.10:g.25022829G>A , CM000685.1:g.25022829G>A GRCh37
NC_000023.9:g.24932750G>A NCBI36
NG_008281.1:g.16237C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1647C>T MANE Select ENSP00000368332.4:p.Leu549=
ENST00000379044.4:c.1647C>T ENSP00000368332.4:p.Leu549=
NM_139058.2:c.1647C>T NP_620689.1:p.Leu549=
NM_139058.3:c.1647C>T MANE Select NP_620689.1:p.Leu549=