Canonical Allele Identifier: CA016797
Gene: SDHD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6900
dbSNP Id: rs104894304

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094831A>G , CM000673.2:g.112094831A>G GRCh38
NC_000011.9:g.111965555A>G , CM000673.1:g.111965555A>G GRCh37
NC_000011.8:g.111470765A>G NCBI36
NG_012337.2:g.12985A>G
NG_012337.3:g.12985A>G

Transcript Alleles

HGVS Amino-acid change
NM_001276503.1:c.196A>G VV NP_001263432.1:p.Met66Val
NM_001276504.1:c.224A>G VV NP_001263433.1:p.Tyr75Cys
NM_001276506.1:c.*39A>G VV NP_001263435.1:p.=
NM_003002.3:c.341A>G VV NP_002993.1:p.Tyr114Cys
NR_077060.1:n.479A>G
NM_003002.4:c.341A>G VV MANE Preferred
ENST00000375549.7:c.341A>G ENSP00000364699.3:p.Tyr114Cys
ENST00000525291.5:c.224A>G ENSP00000436669.1:p.Tyr75Cys
ENST00000525987.5:n.319+5820A>G
ENST00000526592.5:c.*39A>G ENSP00000432005.1:p.=
ENST00000528021.5:c.314+5820A>G ENSP00000432465.1:p.=
ENST00000528048.5:c.196A>G ENSP00000436217.1:p.Met66Val
ENST00000528182.5:c.334A>G ENSP00000435475.1:p.Met112Val
ENST00000530923.5:n.385A>G
ENST00000531744.5:c.314+5820A>G ENSP00000456957.1:p.=
ENST00000532699.1:c.314+5820A>G ENSP00000456434.1:p.=
ENST00000534010.1:n.145+5820A>G