LDH info

Canonical Allele Identifier: CA213235
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 157748
dbSNP Id: rs587783191

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004895del , CM000685.2:g.25004895del GRCh38
NC_000023.10:g.25023012del , CM000685.1:g.25023012del GRCh37
NC_000023.9:g.24932933del NCBI36
NG_008281.1:g.16055del

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.1465del VV NP_620689.1:p.Ala489ProfsTer3
NM_139058.3:c.1465del VV MANE Preferred NP_620689.1:p.Ala489ProfsTer3
ENST00000379044.4:c.1465del ENSP00000368332.4:p.Ala489ProfsTer3