Canonical Allele Identifier: CA2580083511

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1702547
• ClinVar RCV Id: RCV002278865
• dbSNP Id: rs2135277367

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094811dup , CM000673.2:g.112094811dup	GRCh38
NC_000011.9:g.111965535dup , CM000673.1:g.111965535dup	GRCh37
NC_000011.8:g.111470745dup	NCBI36
NG_012337.2:g.12965dup
NG_012337.3:g.12965dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*60dup	ENSP00000432946.2:n.*60dup
ENST00000534010.2:c.314+5800dup	ENSP00000433202.2:n.314+5800dup
ENST00000375549.8:c.321dup MANE Select	ENSP00000364699.3:p.Gly108TrpfsTer6
ENST00000528021.6:c.314+5800dup	ENSP00000432465.1:n.314+5800dup
ENST00000375549.7:c.321dup	ENSP00000364699.3:p.Gly108TrpfsTer6
ENST00000525291.5:c.204dup	ENSP00000436669.1:p.Gly69TrpfsTer6
ENST00000525987.5:n.319+5800dup
ENST00000526592.5:c.*19dup	ENSP00000432005.1:n.*19dup
ENST00000528021.5:c.314+5800dup	ENSP00000432465.1:n.314+5800dup
ENST00000528048.5:c.176dup	ENSP00000436217.1:p.Leu59PhefsTer?
ENST00000528182.5:c.314dup	ENSP00000435475.1:p.Leu105PhefsTer?
ENST00000530923.5:c.365dup
ENST00000531744.5:c.314+5800dup	ENSP00000456957.1:n.314+5800dup
ENST00000532699.1:c.314+5800dup	ENSP00000456434.1:n.314+5800dup
ENST00000534010.1:c.145+5800dup
NM_001276503.1:c.176dup	NP_001263432.1:p.Leu59PhefsTer?
NM_001276504.1:c.204dup	NP_001263433.1:p.Gly69TrpfsTer6
NM_001276506.1:c.*19dup	NP_001263435.1:n.*19dup
NM_003002.3:c.321dup	NP_002993.1:p.Gly108TrpfsTer6
NR_077060.1:n.459dup
NM_003002.4:c.321dup MANE Select	NP_002993.1:p.Gly108TrpfsTer6
NM_001276503.2:c.176dup	NP_001263432.1:p.Leu59PhefsTer?
NM_001276504.2:c.204dup	NP_001263433.1:p.Gly69TrpfsTer6
NM_001276506.2:c.*19dup	NP_001263435.1:n.*19dup
NR_077060.2:n.410dup