Canonical Allele Identifier: CA658821856

Gene: SDHD

Linked Data

• ClinVar Variation Id: 547770
• ClinVar RCV Id: RCV000660263 ; RCV002530564
• dbSNP Id: rs1555187583
• MyVariant Identifiers: chr11:g.111965550dup (hg19) ; chr11:g.112094826dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094826dup , CM000673.2:g.112094826dup	GRCh38
NC_000011.9:g.111965550dup , CM000673.1:g.111965550dup	GRCh37
NC_000011.8:g.111470760dup	NCBI36
NG_012337.2:g.12980dup
NG_012337.3:g.12980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*75dup	ENSP00000432946.2:n.*75dup
ENST00000534010.2:c.314+5815dup	ENSP00000433202.2:n.314+5815dup
ENST00000375549.8:c.336dup MANE Select	ENSP00000364699.3:p.Asp113Ter
ENST00000528021.6:c.314+5815dup	ENSP00000432465.1:n.314+5815dup
ENST00000375549.7:c.336dup	ENSP00000364699.3:p.Asp113Ter
ENST00000525291.5:c.219dup	ENSP00000436669.1:p.Asp74Ter
ENST00000525987.5:n.319+5815dup
ENST00000526592.5:c.*34dup	ENSP00000432005.1:n.*34dup
ENST00000528021.5:c.314+5815dup	ENSP00000432465.1:n.314+5815dup
ENST00000528048.5:c.191dup	ENSP00000436217.1:p.Thr65AspfsTer?
ENST00000528182.5:c.329dup	ENSP00000435475.1:p.Thr111AspfsTer?
ENST00000530923.5:c.380dup
ENST00000531744.5:c.314+5815dup	ENSP00000456957.1:n.314+5815dup
ENST00000532699.1:c.314+5815dup	ENSP00000456434.1:n.314+5815dup
ENST00000534010.1:c.145+5815dup
NM_001276503.1:c.191dup	NP_001263432.1:p.Thr65AspfsTer?
NM_001276504.1:c.219dup	NP_001263433.1:p.Asp74Ter
NM_001276506.1:c.*34dup	NP_001263435.1:n.*34dup
NM_003002.3:c.336dup	NP_002993.1:p.Asp113Ter
NR_077060.1:n.474dup
NM_003002.4:c.336dup MANE Select	NP_002993.1:p.Asp113Ter
NM_001276503.2:c.191dup	NP_001263432.1:p.Thr65AspfsTer?
NM_001276504.2:c.219dup	NP_001263433.1:p.Asp74Ter
NM_001276506.2:c.*34dup	NP_001263435.1:n.*34dup
NR_077060.2:n.425dup