LDH info

Canonical Allele Identifier: CA200619
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 193494
ClinVar RCV Id: RCV000173566
dbSNP Id: rs794726959

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015708G>T , CM000685.2:g.25015708G>T GRCh38
NC_000023.10:g.25033825G>T , CM000685.1:g.25033825G>T GRCh37
NC_000023.9:g.24943746G>T NCBI36
NG_008281.1:g.5241C>A

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.30C>A VV NP_620689.1:p.Cys10Ter
NM_139058.3:c.30C>A VV MANE Preferred NP_620689.1:p.Cys10Ter
ENST00000379044.4:c.30C>A ENSP00000368332.4:p.Cys10Ter