Canonical Allele Identifier: CA382619396
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 1900919
ClinVar RCV Id: RCV002576552
dbSNP Id: rs121908984

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094923C>T , CM000673.2:g.112094923C>T GRCh38
NC_000011.9:g.111965647C>T , CM000673.1:g.111965647C>T GRCh37
NC_000011.8:g.111470857C>T NCBI36
NG_012337.2:g.13077C>T
NG_012337.3:g.13077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*172C>T ENSP00000432946.2:n.*172C>T
ENST00000534010.2:c.314+5912C>T ENSP00000433202.2:n.314+5912C>T
ENST00000375549.8:c.433C>T MANE Select ENSP00000364699.3:p.His145Tyr
ENST00000528021.6:c.314+5912C>T ENSP00000432465.1:n.314+5912C>T
ENST00000375549.7:c.433C>T ENSP00000364699.3:p.His145Tyr
ENST00000525291.5:c.316C>T ENSP00000436669.1:p.His106Tyr
ENST00000525987.5:n.319+5912C>T
ENST00000526592.5:c.*131C>T ENSP00000432005.1:n.*131C>T
ENST00000528021.5:c.314+5912C>T ENSP00000432465.1:n.314+5912C>T
ENST00000528048.5:c.*30C>T ENSP00000436217.1:n.*30C>T
ENST00000528182.5:c.*30C>T ENSP00000435475.1:n.*30C>T
ENST00000530923.5:c.477C>T
ENST00000531744.5:c.314+5912C>T ENSP00000456957.1:n.314+5912C>T
ENST00000532699.1:c.314+5912C>T ENSP00000456434.1:n.314+5912C>T
ENST00000534010.1:c.145+5912C>T
NM_001276503.1:c.*30C>T NP_001263432.1:n.*30C>T
NM_001276504.1:c.316C>T NP_001263433.1:p.His106Tyr
NM_001276506.1:c.*131C>T NP_001263435.1:n.*131C>T
NM_003002.3:c.433C>T NP_002993.1:p.His145Tyr
NR_077060.1:n.571C>T
NM_003002.4:c.433C>T MANE Select NP_002993.1:p.His145Tyr
NM_001276503.2:c.*30C>T NP_001263432.1:n.*30C>T
NM_001276504.2:c.316C>T NP_001263433.1:p.His106Tyr
NM_001276506.2:c.*131C>T NP_001263435.1:n.*131C>T
NR_077060.2:n.522C>T