Canonical Allele Identifier: CA382619607

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2953758
• ClinVar RCV Id: RCV003812981
• COSMIC: COSM4849378
• MyVariant Identifiers: chr11:g.111965693G>C (hg19) ; chr11:g.112094969G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094969G>C , CM000673.2:g.112094969G>C	GRCh38
NC_000011.9:g.111965693G>C , CM000673.1:g.111965693G>C	GRCh37
NC_000011.8:g.111470903G>C	NCBI36
NG_012337.2:g.13123G>C
NG_012337.3:g.13123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*218G>C	ENSP00000432946.2:n.*218G>C
ENST00000534010.2:c.314+5958G>C	ENSP00000433202.2:n.314+5958G>C
ENST00000375549.8:c.479G>C MANE Select	ENSP00000364699.3:p.Ter160Ser
ENST00000528021.6:c.314+5958G>C	ENSP00000432465.1:n.314+5958G>C
ENST00000375549.7:c.479G>C	ENSP00000364699.3:p.Ter160Ser
ENST00000525291.5:c.362G>C	ENSP00000436669.1:p.Ter121Ser
ENST00000525987.5:n.319+5958G>C
ENST00000526592.5:c.*177G>C	ENSP00000432005.1:n.*177G>C
ENST00000528021.5:c.314+5958G>C	ENSP00000432465.1:n.314+5958G>C
ENST00000528048.5:c.*76G>C	ENSP00000436217.1:n.*76G>C
ENST00000528182.5:c.*76G>C	ENSP00000435475.1:n.*76G>C
ENST00000530923.5:c.523G>C
ENST00000531744.5:c.314+5958G>C	ENSP00000456957.1:n.314+5958G>C
ENST00000532699.1:c.314+5958G>C	ENSP00000456434.1:n.314+5958G>C
ENST00000534010.1:c.145+5958G>C
NM_001276503.1:c.*76G>C	NP_001263432.1:n.*76G>C
NM_001276504.1:c.362G>C	NP_001263433.1:p.Ter121Ser
NM_001276506.1:c.*177G>C	NP_001263435.1:n.*177G>C
NM_003002.3:c.479G>C	NP_002993.1:p.Ter160Ser
NR_077060.1:n.617G>C
NM_003002.4:c.479G>C MANE Select	NP_002993.1:p.Ter160Ser
NM_001276503.2:c.*76G>C	NP_001263432.1:n.*76G>C
NM_001276504.2:c.362G>C	NP_001263433.1:p.Ter121Ser
NM_001276506.2:c.*177G>C	NP_001263435.1:n.*177G>C
NR_077060.2:n.568G>C