LDH info

Canonical Allele Identifier: CA120979
Gene: G6PD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 100058
dbSNP Id: rs72554665

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532269C>A , CM000685.2:g.154532269C>A GRCh38
NC_000023.10:g.153760484C>A , CM000685.1:g.153760484C>A GRCh37
NC_000023.9:g.153413678C>A NCBI36
NG_009015.2:g.20304G>T

Transcript Alleles

HGVS Amino-acid change
NM_000402.4:c.1466G>T VV NP_000393.4:p.Arg489Leu
NM_001042351.2:c.1376G>T VV NP_001035810.1:p.Arg459Leu
XM_005274657.2:c.1469G>T XP_005274714.1:p.Arg490Leu
XM_005274658.2:c.1379G>T XP_005274715.1:p.Arg460Leu
NM_001360016.2:c.1376G>T VV MANE Preferred NP_001346945.1:p.Arg459Leu
NM_001042351.3:c.1376G>T VV NP_001035810.1:p.Arg459Leu
ENST00000369620.6:c.1514G>T ENSP00000358633.2:p.Arg505Leu
ENST00000393562.6:c.1466G>T ENSP00000377192.2:p.Arg489Leu
ENST00000393564.6:c.1376G>T ENSP00000377194.2:p.Arg459Leu
ENST00000490651.1:n.597G>T
ENST00000621232.4:c.1376G>T ENSP00000483686.1:p.Arg459Leu