LDH info

Canonical Allele Identifier: CA173224
Gene: PLA2G6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159743
ClinVar RCV Id: RCV000147298
dbSNP Id: rs587784337

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38120802C>T , CM000684.2:g.38120802C>T GRCh38
NC_000022.10:g.38516809C>T , CM000684.1:g.38516809C>T GRCh37
NC_000022.9:g.36846755C>T NCBI36
NG_007094.2:g.89889G>A

Transcript Alleles

HGVS Amino-acid change
NM_001004426.1:c.1537G>A VV NP_001004426.1:p.Glu513Lys
NM_001199562.1:c.1537G>A VV NP_001186491.1:p.Glu513Lys
NM_003560.2:c.1699G>A VV NP_003551.2:p.Glu567Lys
XM_005261764.1:c.1699G>A XP_005261821.1:p.Glu567Lys
XM_005261765.1:c.1699G>A XP_005261822.1:p.Glu567Lys
XM_005261766.1:c.1699G>A XP_005261823.1:p.Glu567Lys
XM_006724332.2:c.1699G>A XP_006724395.1:p.Glu567Lys
XM_011530422.1:c.1594G>A XP_011528724.1:p.Glu532Lys
XM_011530423.1:c.1165G>A XP_011528725.1:p.Glu389Lys
XM_011530424.1:c.1165G>A XP_011528726.1:p.Glu389Lys
XM_011530425.1:c.1165G>A XP_011528727.1:p.Glu389Lys
XM_011530426.1:c.1699G>A XP_011528728.1:p.Glu567Lys
XR_244390.1:n.1807G>A
XR_430411.1:n.1859G>A
XR_937937.1:n.1807G>A
XR_937938.1:n.1893G>A
XR_937939.1:n.1859G>A
NM_001004426.2:c.1537G>A VV NP_001004426.1:p.Glu513Lys
NM_001199562.2:c.1537G>A VV NP_001186491.1:p.Glu513Lys
NM_001349864.1:c.1699G>A VV NP_001336793.1:p.Glu567Lys
NM_001349865.1:c.1537G>A VV NP_001336794.1:p.Glu513Lys
NM_001349866.1:c.1537G>A VV NP_001336795.1:p.Glu513Lys
NM_001349867.1:c.1165G>A VV NP_001336796.1:p.Glu389Lys
NM_001349868.1:c.1021G>A VV NP_001336797.1:p.Glu341Lys
NM_001349869.1:c.1003G>A VV NP_001336798.1:p.Glu335Lys
NM_003560.3:c.1699G>A VV NP_003551.2:p.Glu567Lys
XM_005261764.3:c.1699G>A XP_005261821.1:p.Glu567Lys
XM_005261765.2:c.1699G>A XP_005261822.1:p.Glu567Lys
XM_006724332.4:c.1699G>A XP_006724395.1:p.Glu567Lys
XM_011530426.3:c.1699G>A XP_011528728.1:p.Glu567Lys
XM_017028983.1:c.1003G>A XP_016884472.1:p.Glu335Lys
XM_017028986.2:c.1537G>A XP_016884475.1:p.Glu513Lys
XM_024452280.1:c.1165G>A XP_024308048.1:p.Glu389Lys
XM_024452281.1:c.1165G>A XP_024308049.1:p.Glu389Lys
XM_024452282.1:c.1165G>A XP_024308050.1:p.Glu389Lys
XM_024452283.1:c.1021G>A XP_024308051.1:p.Glu341Lys
XM_024452284.1:c.1003G>A XP_024308052.1:p.Glu335Lys
XM_024452285.1:c.1003G>A XP_024308053.1:p.Glu335Lys
XR_001755325.2:n.1791G>A
XR_001755327.2:n.1877G>A
XR_001755328.2:n.1843G>A
XR_244390.3:n.1791G>A
XR_937938.3:n.1877G>A
XR_937939.3:n.1843G>A
ENST00000332509.7:c.1699G>A ENSP00000333142.3:p.Glu567Lys
ENST00000335539.7:c.1537G>A ENSP00000335149.3:p.Glu513Lys
ENST00000402064.5:c.1537G>A ENSP00000386100.1:p.Glu513Lys
ENST00000448094.5:c.*304G>A ENSP00000407106.1:p.=
ENST00000454670.1:n.344G>A
ENST00000491986.1:n.710G>A
ENST00000496409.1:n.239G>A