LDH info

Canonical Allele Identifier: CA016955
Gene: SDHD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6912
dbSNP Id: rs587776648

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094827_112094830del , CM000673.2:g.112094827_112094830del GRCh38
NC_000011.9:g.111965551_111965554del , CM000673.1:g.111965551_111965554del GRCh37
NC_000011.8:g.111470761_111470764del NCBI36
NG_012337.2:g.12981_12984del
NG_012337.3:g.12981_12984del

Transcript Alleles

HGVS Amino-acid change
NM_001276503.1:c.192_195del VV NP_001263432.1:p.Thr65CysfsTer?
NM_001276504.1:c.220_223del VV NP_001263433.1:p.Asp74MetfsTer21
NM_001276506.1:c.*35_*38del VV NP_001263435.1:p.=
NM_003002.3:c.337_340del VV NP_002993.1:p.Asp113MetfsTer21
NR_077060.1:n.475_478del
NM_003002.4:c.337_340del VV MANE Preferred NP_002993.1:p.Asp113MetfsTer21
ENST00000375549.7:c.337_340del ENSP00000364699.3:p.Asp113MetfsTer21
ENST00000525291.5:c.220_223del ENSP00000436669.1:p.Asp74MetfsTer21
ENST00000525987.5:n.319+5816_319+5819del
ENST00000526592.5:c.*35_*38del ENSP00000432005.1:p.=
ENST00000528021.5:c.314+5816_314+5819del ENSP00000432465.1:p.=
ENST00000528048.5:c.192_195del ENSP00000436217.1:p.Thr65CysfsTer?
ENST00000528182.5:c.330_333del ENSP00000435475.1:p.Thr111CysfsTer?
ENST00000530923.5:n.381_384del
ENST00000531744.5:c.314+5816_314+5819del ENSP00000456957.1:p.=
ENST00000532699.1:c.314+5816_314+5819del ENSP00000456434.1:p.=
ENST00000534010.1:n.145+5816_145+5819del