LDH info

Canonical Allele Identifier: CA173194
Gene: PLA2G6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159726
ClinVar RCV Id: RCV000147280
dbSNP Id: rs587784326

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38132850G>A , CM000684.2:g.38132850G>A GRCh38
NC_000022.10:g.38528857G>A , CM000684.1:g.38528857G>A GRCh37
NC_000022.9:g.36858803G>A NCBI36
NG_007094.2:g.77841C>T

Transcript Alleles

HGVS Amino-acid change
NM_001004426.1:c.1058C>T VV NP_001004426.1:p.Pro353Leu
NM_001199562.1:c.1058C>T VV NP_001186491.1:p.Pro353Leu
NM_003560.2:c.1058C>T VV NP_003551.2:p.Pro353Leu
XM_005261764.1:c.1058C>T XP_005261821.1:p.Pro353Leu
XM_005261765.1:c.1058C>T XP_005261822.1:p.Pro353Leu
XM_005261766.1:c.1058C>T XP_005261823.1:p.Pro353Leu
XM_005261771.3:c.1058C>T XP_005261828.1:p.Pro353Leu
XM_006724332.2:c.1058C>T XP_006724395.1:p.Pro353Leu
XM_011530422.1:c.953C>T XP_011528724.1:p.Pro318Leu
XM_011530423.1:c.524C>T XP_011528725.1:p.Pro175Leu
XM_011530424.1:c.524C>T XP_011528726.1:p.Pro175Leu
XM_011530425.1:c.524C>T XP_011528727.1:p.Pro175Leu
XM_011530426.1:c.1058C>T XP_011528728.1:p.Pro353Leu
XM_011530427.1:c.953C>T XP_011528729.1:p.Pro318Leu
XM_011530428.1:c.1058C>T XP_011528730.1:p.Pro353Leu
XR_244390.1:n.1166C>T
XR_244392.1:n.1166C>T
XR_430411.1:n.1166C>T
XR_430412.1:n.1166C>T
XR_937937.1:n.1166C>T
XR_937938.1:n.1166C>T
XR_937939.1:n.1166C>T
XR_937940.1:n.1166C>T
NM_001004426.2:c.1058C>T VV NP_001004426.1:p.Pro353Leu
NM_001199562.2:c.1058C>T VV NP_001186491.1:p.Pro353Leu
NM_001349864.1:c.1058C>T VV NP_001336793.1:p.Pro353Leu
NM_001349865.1:c.1058C>T VV NP_001336794.1:p.Pro353Leu
NM_001349866.1:c.1058C>T VV NP_001336795.1:p.Pro353Leu
NM_001349867.1:c.524C>T VV NP_001336796.1:p.Pro175Leu
NM_001349868.1:c.380C>T VV NP_001336797.1:p.Pro127Leu
NM_001349869.1:c.524C>T VV NP_001336798.1:p.Pro175Leu
NM_003560.3:c.1058C>T VV NP_003551.2:p.Pro353Leu
XM_005261764.3:c.1058C>T XP_005261821.1:p.Pro353Leu
XM_005261765.2:c.1058C>T XP_005261822.1:p.Pro353Leu
XM_006724332.4:c.1058C>T XP_006724395.1:p.Pro353Leu
XM_011530426.3:c.1058C>T XP_011528728.1:p.Pro353Leu
XM_017028983.1:c.524C>T XP_016884472.1:p.Pro175Leu
XM_017028986.2:c.1058C>T XP_016884475.1:p.Pro353Leu
XM_017028987.2:c.1058C>T XP_016884476.1:p.Pro353Leu
XM_017028988.2:c.1058C>T XP_016884477.1:p.Pro353Leu
XM_024452280.1:c.524C>T XP_024308048.1:p.Pro175Leu
XM_024452281.1:c.524C>T XP_024308049.1:p.Pro175Leu
XM_024452282.1:c.524C>T XP_024308050.1:p.Pro175Leu
XM_024452283.1:c.380C>T XP_024308051.1:p.Pro127Leu
XM_024452284.1:c.524C>T XP_024308052.1:p.Pro175Leu
XM_024452285.1:c.524C>T XP_024308053.1:p.Pro175Leu
XR_001755325.2:n.1150C>T
XR_001755327.2:n.1150C>T
XR_001755328.2:n.1150C>T
XR_244390.3:n.1150C>T
XR_937938.3:n.1150C>T
XR_937939.3:n.1150C>T
XR_937940.3:n.1150C>T
ENST00000332509.7:c.1058C>T ENSP00000333142.3:p.Pro353Leu
ENST00000335539.7:c.1058C>T ENSP00000335149.3:p.Pro353Leu
ENST00000402064.5:c.1058C>T ENSP00000386100.1:p.Pro353Leu
ENST00000427114.5:n.472C>T
ENST00000427453.5:n.313C>T
ENST00000448094.5:c.239C>T ENSP00000407106.1:p.Pro80Leu
ENST00000452542.5:n.550C>T
ENST00000452794.5:n.28C>T
ENST00000471636.5:n.413-6323C>T