Canonical Allele Identifier: CA10582872
Gene: SDHD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 239470
ClinVar RCV Id: RCV000226232
dbSNP Id: rs878854594

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094851C>T , CM000673.2:g.112094851C>T GRCh38
NC_000011.9:g.111965575C>T , CM000673.1:g.111965575C>T GRCh37
NC_000011.8:g.111470785C>T NCBI36
NG_012337.2:g.13005C>T
NG_012337.3:g.13005C>T

Transcript Alleles

HGVS Amino-acid change
NM_001276503.1:c.216C>T VV NP_001263432.1:p.Cys72=
NM_001276504.1:c.244C>T VV NP_001263433.1:p.Gln82Ter
NM_001276506.1:c.*59C>T VV NP_001263435.1:p.=
NM_003002.3:c.361C>T VV NP_002993.1:p.Gln121Ter
NR_077060.1:n.499C>T
NM_003002.4:c.361C>T VV MANE Preferred
ENST00000375549.7:c.361C>T ENSP00000364699.3:p.Gln121Ter
ENST00000525291.5:c.244C>T ENSP00000436669.1:p.Gln82Ter
ENST00000525987.5:n.319+5840C>T
ENST00000526592.5:c.*59C>T ENSP00000432005.1:p.=
ENST00000528021.5:c.314+5840C>T ENSP00000432465.1:p.=
ENST00000528048.5:c.216C>T ENSP00000436217.1:p.Cys72=
ENST00000528182.5:c.354C>T ENSP00000435475.1:p.Cys118=
ENST00000530923.5:n.405C>T
ENST00000531744.5:c.314+5840C>T ENSP00000456957.1:p.=
ENST00000532699.1:c.314+5840C>T ENSP00000456434.1:p.=
ENST00000534010.1:n.145+5840C>T