Canonical Allele Identifier: CA412611601
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25025516T>G (hg19) chrX:g.25007399T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007399T>G , CM000685.2:g.25007399T>G GRCh38
NC_000023.10:g.25025516T>G , CM000685.1:g.25025516T>G GRCh37
NC_000023.9:g.24935437T>G NCBI36
NG_008281.1:g.13550A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1160A>C MANE Select ENSP00000368332.4:p.Glu387Ala
ENST00000379044.4:c.1160A>C ENSP00000368332.4:p.Glu387Ala
NM_139058.2:c.1160A>C NP_620689.1:p.Glu387Ala
NM_139058.3:c.1160A>C MANE Select NP_620689.1:p.Glu387Ala
Search 100 bp 5'
Search 100 bp 3'