Canonical Allele Identifier: CA10579346
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 230274
dbSNP Id: rs876658477

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094810T>G , CM000673.2:g.112094810T>G GRCh38
NC_000011.9:g.111965534T>G , CM000673.1:g.111965534T>G GRCh37
NC_000011.8:g.111470744T>G NCBI36
NG_012337.2:g.12964T>G
NG_012337.3:g.12964T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*59T>G ENSP00000432946.2:n.*59T>G
ENST00000534010.2:c.314+5799T>G ENSP00000433202.2:n.314+5799T>G
ENST00000375549.8:c.320T>G MANE Select ENSP00000364699.3:p.Leu107Arg
ENST00000528021.6:c.314+5799T>G ENSP00000432465.1:n.314+5799T>G
ENST00000375549.7:c.320T>G ENSP00000364699.3:p.Leu107Arg
ENST00000525291.5:c.203T>G ENSP00000436669.1:p.Leu68Arg
ENST00000525987.5:n.319+5799T>G
ENST00000526592.5:c.*18T>G ENSP00000432005.1:n.*18T>G
ENST00000528021.5:c.314+5799T>G ENSP00000432465.1:n.314+5799T>G
ENST00000528048.5:c.175T>G ENSP00000436217.1:p.Leu59Val
ENST00000528182.5:c.313T>G ENSP00000435475.1:p.Leu105Val
ENST00000530923.5:c.364T>G
ENST00000531744.5:c.314+5799T>G ENSP00000456957.1:n.314+5799T>G
ENST00000532699.1:c.314+5799T>G ENSP00000456434.1:n.314+5799T>G
ENST00000534010.1:c.145+5799T>G
NM_001276503.1:c.175T>G NP_001263432.1:p.Leu59Val
NM_001276504.1:c.203T>G NP_001263433.1:p.Leu68Arg
NM_001276506.1:c.*18T>G NP_001263435.1:n.*18T>G
NM_003002.3:c.320T>G NP_002993.1:p.Leu107Arg
NR_077060.1:n.458T>G
NM_003002.4:c.320T>G MANE Select NP_002993.1:p.Leu107Arg
NM_001276503.2:c.175T>G NP_001263432.1:p.Leu59Val
NM_001276504.2:c.203T>G NP_001263433.1:p.Leu68Arg
NM_001276506.2:c.*18T>G NP_001263435.1:n.*18T>G
NR_077060.2:n.409T>G