Canonical Allele Identifier: CA412612380
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031300G>A (hg19) chrX:g.25013183G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013183G>A , CM000685.2:g.25013183G>A GRCh38
NC_000023.10:g.25031300G>A , CM000685.1:g.25031300G>A GRCh37
NC_000023.9:g.24941221G>A NCBI36
NG_008281.1:g.7766C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.812C>T MANE Select ENSP00000368332.4:p.Thr271Ile
ENST00000379044.4:c.812C>T ENSP00000368332.4:p.Thr271Ile
NM_139058.2:c.812C>T NP_620689.1:p.Thr271Ile
NM_139058.3:c.812C>T MANE Select NP_620689.1:p.Thr271Ile
Search 100 bp 5'
Search 100 bp 3'