LDH info

Canonical Allele Identifier: CA337316269
Gene: G6PD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 804134
ClinVar RCV Id: RCV000991012
dbSNP Id: rs137852325

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532662C>T , CM000685.2:g.154532662C>T GRCh38
NC_000023.10:g.153760877C>T , CM000685.1:g.153760877C>T GRCh37
NC_000023.9:g.153414071C>T NCBI36
NG_009015.2:g.19911G>A

Transcript Alleles

HGVS Amino-acid change
NM_000402.4:c.1282G>A VV NP_000393.4:p.Glu428Lys
NM_001042351.2:c.1192G>A VV NP_001035810.1:p.Glu398Lys
XM_005274657.2:c.1285G>A XP_005274714.1:p.Glu429Lys
XM_005274658.2:c.1195G>A XP_005274715.1:p.Glu399Lys
XM_011531132.1:c.*105G>A XP_011529434.1:p.=
NM_001360016.2:c.1192G>A VV MANE Preferred NP_001346945.1:p.Glu398Lys
NM_001042351.3:c.1192G>A VV NP_001035810.1:p.Glu398Lys
ENST00000369620.6:c.1330G>A ENSP00000358633.2:p.Glu444Lys
ENST00000393562.6:c.1282G>A ENSP00000377192.2:p.Glu428Lys
ENST00000393564.6:c.1192G>A ENSP00000377194.2:p.Glu398Lys
ENST00000490651.1:n.413G>A
ENST00000621232.4:c.1192G>A ENSP00000483686.1:p.Glu398Lys