LDH info

Canonical Allele Identifier: CA176313
Gene: HPS4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 163673
dbSNP Id: rs2014410

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26464303G>C , CM000684.2:g.26464303G>C GRCh38
NC_000022.10:g.26860269G>C , CM000684.1:g.26860269G>C GRCh37
NC_000022.9:g.25190269G>C NCBI36
NG_009763.2:g.24561C>G , LRG_590:g.24561C>G

Transcript Alleles

HGVS Amino-acid change
NM_022081.5:c.1327C>G , LRG_590t1:c.1327C>G NP_071364.4:p.Leu443Val
NM_152841.2:c.1312C>G , LRG_590t2:c.1312C>G NP_690054.1:p.Leu438Val
NR_073135.1:n.2013C>G
NR_073136.1:n.1775C>G
XM_006724353.2:c.1381C>G XP_006724416.1:p.Leu461Val
XM_006724354.2:c.1381C>G XP_006724417.1:p.Leu461Val
XM_006724360.2:c.814C>G XP_006724423.1:p.Leu272Val
XM_011530485.1:c.1459C>G XP_011528787.1:p.Leu487Val
XM_011530486.1:c.1459C>G XP_011528788.1:p.Leu487Val
XM_011530487.1:c.1459C>G XP_011528789.1:p.Leu487Val
XM_011530488.1:c.1459C>G XP_011528790.1:p.Leu487Val
XM_011530489.1:c.1459C>G XP_011528791.1:p.Leu487Val
XM_011530490.1:c.1405C>G XP_011528792.1:p.Leu469Val
XM_011530491.1:c.1459C>G XP_011528793.1:p.Leu487Val
XM_011530492.1:c.1459C>G XP_011528794.1:p.Leu487Val
XM_011530493.1:c.1459C>G XP_011528795.1:p.Leu487Val
XM_011530494.1:c.667C>G XP_011528796.1:p.Leu223Val
XM_011530495.1:c.814C>G XP_011528797.1:p.Leu272Val
XM_011530496.1:c.667C>G XP_011528798.1:p.Leu223Val
XR_937947.1:n.2118C>G
NM_001349896.1:c.1327C>G VV NP_001336825.1:p.Leu443Val
NM_001349898.1:c.1327C>G VV NP_001336827.1:p.Leu443Val
NM_001349899.1:c.1327C>G VV NP_001336828.1:p.Leu443Val
NM_001349900.1:c.1381C>G VV NP_001336829.1:p.Leu461Val
NM_001349901.1:c.1381C>G VV NP_001336830.1:p.Leu461Val
NM_001349902.1:c.1327C>G VV NP_001336831.1:p.Leu443Val
NM_001349903.1:c.1327C>G VV NP_001336832.1:p.Leu443Val
NM_001349904.1:c.1327C>G VV NP_001336833.1:p.Leu443Val
NM_001349905.1:c.1327C>G VV NP_001336834.1:p.Leu443Val
NR_146311.1:n.2104C>G
NR_146312.1:n.1929C>G
NR_146313.1:n.1949C>G
NR_146314.1:n.2080C>G
NR_146315.1:n.2020C>G
NR_146316.1:n.1995C>G
XM_006724360.3:c.814C>G XP_006724423.1:p.Leu272Val
XM_011530485.2:c.1459C>G XP_011528787.1:p.Leu487Val
XM_011530486.2:c.1459C>G XP_011528788.1:p.Leu487Val
XM_011530487.2:c.1459C>G XP_011528789.1:p.Leu487Val
XM_011530488.2:c.1459C>G XP_011528790.1:p.Leu487Val
XM_011530489.2:c.1459C>G XP_011528791.1:p.Leu487Val
XM_011530490.3:c.1405C>G XP_011528792.1:p.Leu469Val
XM_011530491.3:c.1459C>G XP_011528793.1:p.Leu487Val
XM_011530492.2:c.1459C>G XP_011528794.1:p.Leu487Val
XM_011530493.3:c.1459C>G XP_011528795.1:p.Leu487Val
XM_011530494.2:c.667C>G XP_011528796.1:p.Leu223Val
XM_011530495.2:c.814C>G XP_011528797.1:p.Leu272Val
XM_011530496.2:c.667C>G XP_011528798.1:p.Leu223Val
XM_017029045.2:c.1405C>G XP_016884534.1:p.Leu469Val
XM_017029046.2:c.1327C>G XP_016884535.1:p.Leu443Val
XM_017029047.2:c.1405C>G XP_016884536.1:p.Leu469Val
XM_017029052.2:c.919C>G XP_016884541.1:p.Leu307Val
XM_017029053.1:c.904C>G XP_016884542.1:p.Leu302Val
XM_017029056.2:c.532C>G XP_016884545.1:p.Leu178Val
XM_017029061.2:c.532C>G XP_016884550.1:p.Leu178Val
XM_017029062.2:c.532C>G XP_016884551.1:p.Leu178Val
XM_017029063.2:c.532C>G XP_016884552.1:p.Leu178Val
XM_017029064.2:c.532C>G XP_016884553.1:p.Leu178Val
XM_024452298.1:c.700C>G XP_024308066.1:p.Leu234Val
XM_024452299.1:c.532C>G XP_024308067.1:p.Leu178Val
XM_024452300.1:c.532C>G XP_024308068.1:p.Leu178Val
XR_001755361.2:n.2035C>G
XR_001755364.1:n.1891C>G
XR_001755366.2:n.2564C>G
XR_002958721.1:n.2113C>G
XR_937947.2:n.2113C>G
NM_001349898.2:c.1327C>G VV NP_001336827.1:p.Leu443Val
NM_001349899.2:c.1327C>G VV NP_001336828.1:p.Leu443Val
NM_001349900.2:c.1381C>G VV NP_001336829.1:p.Leu461Val
NM_001349903.2:c.1327C>G VV NP_001336832.1:p.Leu443Val
NM_001349904.2:c.1327C>G VV NP_001336833.1:p.Leu443Val
NR_073136.2:n.1582C>G
NR_146311.2:n.2024C>G
NR_146313.2:n.1869C>G
NR_146315.2:n.1940C>G
ENST00000336873.9:c.1327C>G ENSP00000338457.5:p.Leu443Val
ENST00000398145.6:c.1327C>G ENSP00000381213.2:p.Leu443Val
ENST00000402105.7:c.1312C>G ENSP00000384185.3:p.Leu438Val
ENST00000422379.2:c.1381C>G ENSP00000415081.2:p.Leu461Val
ENST00000429411.5:c.*899C>G ENSP00000399705.1:p.=
ENST00000439453.5:c.*845C>G ENSP00000406764.1:p.=
ENST00000464362.5:c.*1658C>G ENSP00000430291.1:p.=
ENST00000466781.5:n.4186C>G
ENST00000485842.5:n.404+4248C>G
ENST00000496385.5:n.2093C>G