Canonical Allele Identifier: CA382618774
Gene: SDHD HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094815C>G , CM000673.2:g.112094815C>G GRCh38
NC_000011.9:g.111965539C>G , CM000673.1:g.111965539C>G GRCh37
NC_000011.8:g.111470749C>G NCBI36
NG_012337.2:g.12969C>G
NG_012337.3:g.12969C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*64C>G ENSP00000432946.2:n.*64C>G
ENST00000534010.2:c.314+5804C>G ENSP00000433202.2:n.314+5804C>G
ENST00000375549.8:c.325C>G MANE Select ENSP00000364699.3:p.Gln109Glu
ENST00000528021.6:c.314+5804C>G ENSP00000432465.1:n.314+5804C>G
ENST00000375549.7:c.325C>G ENSP00000364699.3:p.Gln109Glu
ENST00000525291.5:c.208C>G ENSP00000436669.1:p.Gln70Glu
ENST00000525987.5:n.319+5804C>G
ENST00000526592.5:c.*23C>G ENSP00000432005.1:n.*23C>G
ENST00000528021.5:c.314+5804C>G ENSP00000432465.1:n.314+5804C>G
ENST00000528048.5:c.180C>G ENSP00000436217.1:p.Asp60Glu
ENST00000528182.5:c.318C>G ENSP00000435475.1:p.Asp106Glu
ENST00000530923.5:c.369C>G
ENST00000531744.5:c.314+5804C>G ENSP00000456957.1:n.314+5804C>G
ENST00000532699.1:c.314+5804C>G ENSP00000456434.1:n.314+5804C>G
ENST00000534010.1:c.145+5804C>G
NM_001276503.1:c.180C>G NP_001263432.1:p.Asp60Glu
NM_001276504.1:c.208C>G NP_001263433.1:p.Gln70Glu
NM_001276506.1:c.*23C>G NP_001263435.1:n.*23C>G
NM_003002.3:c.325C>G NP_002993.1:p.Gln109Glu
NR_077060.1:n.463C>G
NM_003002.4:c.325C>G MANE Select NP_002993.1:p.Gln109Glu
NM_001276503.2:c.180C>G NP_001263432.1:p.Asp60Glu
NM_001276504.2:c.208C>G NP_001263433.1:p.Gln70Glu
NM_001276506.2:c.*23C>G NP_001263435.1:n.*23C>G
NR_077060.2:n.414C>G