Canonical Allele Identifier: CA10582874

Gene: SDHD

Linked Data

• ClinVar Variation Id: 239473
• ClinVar RCV Id: RCV000226713
• dbSNP Id: rs878854596
• gnomAD v3: 11-112094962-A-AAGCTCTGACCT
• gnomAD v4: 11-112094962-A-AAGCTCTGACCT
• MyVariant Identifiers: chr11:g.111965687_111965697dupAGCTCTGACCT (hg19) ; chr11:g.112094963_112094973dupAGCTCTGACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094963_112094973dup , CM000673.2:g.112094963_112094973dup	GRCh38
NC_000011.9:g.111965687_111965697dup , CM000673.1:g.111965687_111965697dup	GRCh37
NC_000011.8:g.111470897_111470907dup	NCBI36
NG_012337.2:g.13117_13127dup
NG_012337.3:g.13117_13127dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*212_*222dup	ENSP00000432946.2:n.*212_*222dup
ENST00000534010.2:c.314+5952_314+5962dup	ENSP00000433202.2:n.314+5952_314+5962dup
ENST00000375549.8:c.473_*3dup MANE Select	ENSP00000364699.3:n.473_*3dup
ENST00000528021.6:c.314+5952_314+5962dup	ENSP00000432465.1:n.314+5952_314+5962dup
ENST00000375549.7:c.473_*3dup	ENSP00000364699.3:n.473_*3dup
ENST00000525291.5:c.356_*3dup	ENSP00000436669.1:n.356_*3dup
ENST00000525987.5:n.319+5952_319+5962dup
ENST00000526592.5:c.*171_*181dup	ENSP00000432005.1:n.*171_*181dup
ENST00000528021.5:c.314+5952_314+5962dup	ENSP00000432465.1:n.314+5952_314+5962dup
ENST00000528048.5:c.*70_*80dup	ENSP00000436217.1:n.*70_*80dup
ENST00000528182.5:c.*70_*80dup	ENSP00000435475.1:n.*70_*80dup
ENST00000530923.5:c.517_527dup
ENST00000531744.5:c.314+5952_314+5962dup	ENSP00000456957.1:n.314+5952_314+5962dup
ENST00000532699.1:c.314+5952_314+5962dup	ENSP00000456434.1:n.314+5952_314+5962dup
ENST00000534010.1:c.145+5952_145+5962dup
NM_001276503.1:c.*70_*80dup	NP_001263432.1:n.*70_*80dup
NM_001276504.1:c.356_*3dup	NP_001263433.1:n.356_*3dup
NM_001276506.1:c.*171_*181dup	NP_001263435.1:n.*171_*181dup
NM_003002.3:c.473_*3dup	NP_002993.1:n.473_*3dup
NR_077060.1:n.611_621dup
NM_003002.4:c.473_*3dup MANE Select	NP_002993.1:n.473_*3dup
NM_001276503.2:c.*70_*80dup	NP_001263432.1:n.*70_*80dup
NM_001276504.2:c.356_*3dup	NP_001263433.1:n.356_*3dup
NM_001276506.2:c.*171_*181dup	NP_001263435.1:n.*171_*181dup
NR_077060.2:n.562_572dup