Canonical Allele Identifier: CA213228
Gene: ARX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.25007438A>T
GRCh37 chrX:g.25025555A>T
Revel Score:
ENST00000379044 (MANE Select) 0.962
ClinVar RCV:
RCV000145039
ClinVar Variation:
157740
dbSNP:
587783183
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007438A>T , CM000685.2:g.25007438A>T GRCh38
NC_000023.10:g.25025555A>T , CM000685.1:g.25025555A>T GRCh37
NC_000023.9:g.24935476A>T NCBI36
NG_008281.1:g.13511T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1121T>A MANE Select ENSP00000368332.4:p.Val374Asp
ENST00000379044.4:c.1121T>A ENSP00000368332.4:p.Val374Asp
NM_139058.2:c.1121T>A NP_620689.1:p.Val374Asp
NM_139058.3:c.1121T>A MANE Select NP_620689.1:p.Val374Asp
Search 100 bp 5'
Search 100 bp 3'