LDH info

Canonical Allele Identifier: CA7546982
Gene: SLC12A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265999

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48234952del , CM000677.2:g.48234952del GRCh38
NC_000015.9:g.48527149del , CM000677.1:g.48527149del GRCh37
NC_000015.8:g.46314441del NCBI36
NG_021301.1:g.33652del

Transcript Alleles

HGVS Amino-acid change
NM_000338.2:c.1163del VV NP_000329.2:p.Phe388SerfsTer?
NM_001184832.1:c.1163del VV NP_001171761.1:p.Phe388SerfsTer?
XM_005254605.1:c.1259del XP_005254662.1:p.Phe420SerfsTer?
XM_005254606.1:c.1163del XP_005254663.1:p.Phe388SerfsTer?
XM_006720656.1:c.1259del XP_006720719.1:p.Phe420SerfsTer?
XR_931896.1:n.1475del
XM_005254606.2:c.1163del XP_005254663.1:p.Phe388SerfsTer?
NM_000338.3:c.1163del VV NP_000329.2:p.Phe388SerfsTer?
NM_001184832.2:c.1163del VV NP_001171761.1:p.Phe388SerfsTer?
ENST00000330289.10:c.1163del ENSP00000331550.6:p.Phe388SerfsTer20
ENST00000380993.7:c.1163del ENSP00000370381.3:p.Phe388SerfsTer?
ENST00000396577.7:c.1163del ENSP00000379822.3:p.Phe388SerfsTer?
ENST00000558252.5:n.5286del
ENST00000558405.5:c.1163del ENSP00000453409.1:p.Phe388SerfsTer?
ENST00000558805.1:n.190del
ENST00000559641.5:c.602del ENSP00000453230.1:p.Phe201SerfsTer?
ENST00000560692.5:n.5302del