LDH info

Canonical Allele Identifier: CA121006
Gene: G6PD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10396
dbSNP Id: rs137852334

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532695G>A , CM000685.2:g.154532695G>A GRCh38
NC_000023.10:g.153760910G>A , CM000685.1:g.153760910G>A GRCh37
NC_000023.9:g.153414104G>A NCBI36
NG_009015.2:g.19878C>T

Transcript Alleles

HGVS Amino-acid change
NM_000402.4:c.1249C>T VV NP_000393.4:p.Arg417Cys
NM_001042351.2:c.1159C>T VV NP_001035810.1:p.Arg387Cys
XM_005274657.2:c.1252C>T XP_005274714.1:p.Arg418Cys
XM_005274658.2:c.1162C>T XP_005274715.1:p.Arg388Cys
XM_011531132.1:c.*72C>T XP_011529434.1:p.=
NM_001360016.2:c.1159C>T VV MANE Preferred NP_001346945.1:p.Arg387Cys
NM_001042351.3:c.1159C>T VV NP_001035810.1:p.Arg387Cys
ENST00000369620.6:c.1297C>T ENSP00000358633.2:p.Arg433Cys
ENST00000393562.6:c.1249C>T ENSP00000377192.2:p.Arg417Cys
ENST00000393564.6:c.1159C>T ENSP00000377194.2:p.Arg387Cys
ENST00000490651.1:n.380C>T
ENST00000621232.4:c.1159C>T ENSP00000483686.1:p.Arg387Cys