LDH info

Canonical Allele Identifier: CA213326
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 210316
ClinVar RCV Id: RCV000192868
dbSNP Id: rs797045289

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010284del , CM000685.2:g.25010284del GRCh38
NC_000023.10:g.25028401del , CM000685.1:g.25028401del GRCh37
NC_000023.9:g.24938322del NCBI36
NG_008281.1:g.10666del

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.1096del VV NP_620689.1:p.Asp366ThrfsTer2
NM_139058.3:c.1096del VV MANE Preferred NP_620689.1:p.Asp366ThrfsTer2
ENST00000379044.4:c.1096del ENSP00000368332.4:p.Asp366ThrfsTer2