LDH info

Canonical Allele Identifier: CA617822477
Gene: SLC12A1 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229311_48229312del , CM000677.2:g.48229311_48229312del GRCh38
NC_000015.9:g.48521508_48521509del , CM000677.1:g.48521508_48521509del GRCh37
NC_000015.8:g.46308800_46308801del NCBI36
NG_021301.1:g.28011_28012del

Transcript Alleles

HGVS Amino-acid change
NM_000338.2:c.847_848del VV NP_000329.2:p.Val283SerfsTer5
NM_001184832.1:c.847_848del VV NP_001171761.1:p.Val283SerfsTer5
XM_005254605.1:c.943_944del XP_005254662.1:p.Val315SerfsTer5
XM_005254606.1:c.847_848del XP_005254663.1:p.Val283SerfsTer5
XM_006720656.1:c.943_944del XP_006720719.1:p.Val315SerfsTer5
XR_931896.1:n.1159_1160del
XR_932203.1:n.229+645_229+646del
XR_932204.1:n.222+645_222+646del
XM_005254606.2:c.847_848del XP_005254663.1:p.Val283SerfsTer5
XR_001751524.2:n.230+645_230+646del
XR_001751525.1:n.230+645_230+646del
XR_002957762.1:n.230+645_230+646del
XR_932204.3:n.224+645_224+646del
NM_000338.3:c.847_848del VV MANE Preferred NP_000329.2:p.Val283SerfsTer5
NM_001184832.2:c.847_848del VV NP_001171761.1:p.Val283SerfsTer5
ENST00000330289.10:c.847_848del ENSP00000331550.6:p.Val283SerfsTer5
ENST00000380993.7:c.847_848del ENSP00000370381.3:p.Val283SerfsTer5
ENST00000396577.7:c.847_848del ENSP00000379822.3:p.Val283SerfsTer5
ENST00000558252.5:n.4970_4971del
ENST00000558405.5:c.847_848del ENSP00000453409.1:p.Val283SerfsTer5
ENST00000559641.5:c.286_287del ENSP00000453230.1:p.Val96SerfsTer5
ENST00000559723.2:n.220_221del
ENST00000560692.5:n.4986_4987del
ENST00000561127.5:c.286_287del ENSP00000453602.2:p.Val96SerfsTer5