LDH info

Canonical Allele Identifier: CA15996687
Gene: HPS4 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs9608491

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26475019A>G , CM000684.2:g.26475019A>G GRCh38
NC_000022.10:g.26870985A>G , CM000684.1:g.26870985A>G GRCh37
NC_000022.9:g.25200985A>G NCBI36
NG_009763.2:g.13845T>C , LRG_590:g.13845T>C

Transcript Alleles

HGVS Amino-acid change
NM_022081.5:c.276+1974T>C , LRG_590t1:c.276+1974T>C NP_071364.4:p.=
NM_152841.2:c.261+1974T>C , LRG_590t2:c.261+1974T>C NP_690054.1:p.=
NR_073135.1:n.853+1974T>C
NR_073136.1:n.561+1974T>C
XM_006724353.2:c.276+1974T>C XP_006724416.1:p.=
XM_006724354.2:c.276+1974T>C XP_006724417.1:p.=
XM_011530485.1:c.276+1974T>C XP_011528787.1:p.=
XM_011530486.1:c.276+1974T>C XP_011528788.1:p.=
XM_011530487.1:c.276+1974T>C XP_011528789.1:p.=
XM_011530488.1:c.276+1974T>C XP_011528790.1:p.=
XM_011530489.1:c.276+1974T>C XP_011528791.1:p.=
XM_011530490.1:c.276+1974T>C XP_011528792.1:p.=
XM_011530491.1:c.276+1974T>C XP_011528793.1:p.=
XM_011530492.1:c.276+1974T>C XP_011528794.1:p.=
XM_011530493.1:c.276+1974T>C XP_011528795.1:p.=
XM_011530494.1:c.-517+1974T>C XP_011528796.1:p.=
XR_937947.1:n.935+1974T>C
NM_001349896.1:c.276+1974T>C VV NP_001336825.1:p.=
NM_001349898.1:c.276+1974T>C VV NP_001336827.1:p.=
NM_001349899.1:c.276+1974T>C VV NP_001336828.1:p.=
NM_001349900.1:c.276+1974T>C VV NP_001336829.1:p.=
NM_001349901.1:c.276+1974T>C VV NP_001336830.1:p.=
NM_001349902.1:c.276+1974T>C VV NP_001336831.1:p.=
NM_001349903.1:c.276+1974T>C VV NP_001336832.1:p.=
NM_001349904.1:c.276+1974T>C VV NP_001336833.1:p.=
NM_001349905.1:c.276+1974T>C VV NP_001336834.1:p.=
NR_146311.1:n.944+1974T>C
NR_146312.1:n.853+1974T>C
NR_146313.1:n.873+1974T>C
NR_146314.1:n.853+1974T>C
NR_146315.1:n.944+1974T>C
NR_146316.1:n.944+1974T>C
XM_011530485.2:c.276+1974T>C XP_011528787.1:p.=
XM_011530486.2:c.276+1974T>C XP_011528788.1:p.=
XM_011530487.2:c.276+1974T>C XP_011528789.1:p.=
XM_011530488.2:c.276+1974T>C XP_011528790.1:p.=
XM_011530489.2:c.276+1974T>C XP_011528791.1:p.=
XM_011530490.3:c.276+1974T>C XP_011528792.1:p.=
XM_011530491.3:c.276+1974T>C XP_011528793.1:p.=
XM_011530492.2:c.276+1974T>C XP_011528794.1:p.=
XM_011530493.3:c.276+1974T>C XP_011528795.1:p.=
XM_011530494.2:c.-517+1974T>C XP_011528796.1:p.=
XM_017029045.2:c.276+1974T>C XP_016884534.1:p.=
XM_017029046.2:c.276+1974T>C XP_016884535.1:p.=
XM_017029047.2:c.276+1974T>C XP_016884536.1:p.=
XM_017029052.2:c.-296+1974T>C XP_016884541.1:p.=
XM_017029056.2:c.-696+1974T>C XP_016884545.1:p.=
XM_017029061.2:c.-654+1974T>C XP_016884550.1:p.=
XM_017029062.2:c.-520+1974T>C XP_016884551.1:p.=
XM_017029063.2:c.-654+1974T>C XP_016884552.1:p.=
XM_017029064.2:c.-520+1974T>C XP_016884553.1:p.=
XM_024452298.1:c.-2640+1974T>C XP_024308066.1:p.=
XM_024452299.1:c.-1194+1974T>C XP_024308067.1:p.=
XM_024452300.1:c.-545+1974T>C XP_024308068.1:p.=
XR_001755361.2:n.930+1974T>C
XR_001755364.1:n.840+1974T>C
XR_001755366.2:n.839+1974T>C
XR_002958721.1:n.930+1974T>C
XR_937947.2:n.930+1974T>C
NM_001349898.2:c.276+1974T>C VV NP_001336827.1:p.=
NM_001349899.2:c.276+1974T>C VV NP_001336828.1:p.=
NM_001349900.2:c.276+1974T>C VV NP_001336829.1:p.=
NM_001349903.2:c.276+1974T>C VV NP_001336832.1:p.=
NM_001349904.2:c.276+1974T>C VV NP_001336833.1:p.=
NR_073136.2:n.368+1974T>C
NR_146311.2:n.864+1974T>C
NR_146313.2:n.793+1974T>C
NR_146315.2:n.864+1974T>C
ENST00000336873.9:c.276+1974T>C ENSP00000338457.5:p.=
ENST00000398145.6:c.276+1974T>C ENSP00000381213.2:p.=
ENST00000402105.7:c.261+1974T>C ENSP00000384185.3:p.=
ENST00000422379.2:c.276+1974T>C ENSP00000415081.2:p.=
ENST00000429411.5:c.261+1974T>C ENSP00000399705.1:p.=
ENST00000439453.5:c.276+1974T>C ENSP00000406764.1:p.=
ENST00000459918.1:n.19+1974T>C
ENST00000464362.5:c.261+1974T>C ENSP00000430291.1:p.=
ENST00000466781.5:n.847+1974T>C
ENST00000496385.5:n.368+1974T>C