Canonical Allele Identifier: CA515947195
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1225724106
MyVariant Identifiers: chrX:g.25031173G>A (hg19) chrX:g.25013056G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013056G>A , CM000685.2:g.25013056G>A GRCh38
NC_000023.10:g.25031173G>A , CM000685.1:g.25031173G>A GRCh37
NC_000023.9:g.24941094G>A NCBI36
NG_008281.1:g.7893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.939C>T MANE Select ENSP00000368332.4:p.Leu313=
ENST00000379044.4:c.939C>T ENSP00000368332.4:p.Leu313=
NM_139058.2:c.939C>T NP_620689.1:p.Leu313=
NM_139058.3:c.939C>T MANE Select NP_620689.1:p.Leu313=
Search 100 bp 5'
Search 100 bp 3'