Canonical Allele Identifier: CA2573146853

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1692741
• ClinVar RCV Id: RCV002257334
• dbSNP Id: rs2135277783

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094935_112094938dup , CM000673.2:g.112094935_112094938dup	GRCh38
NC_000011.9:g.111965659_111965662dup , CM000673.1:g.111965659_111965662dup	GRCh37
NC_000011.8:g.111470869_111470872dup	NCBI36
NG_012337.2:g.13089_13092dup
NG_012337.3:g.13089_13092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*184_*187dup	ENSP00000432946.2:n.*184_*187dup
ENST00000534010.2:c.314+5924_314+5927dup	ENSP00000433202.2:n.314+5924_314+5927dup
ENST00000375549.8:c.445_448dup MANE Select	ENSP00000364699.3:p.Cys150TyrfsTer?
ENST00000528021.6:c.314+5924_314+5927dup	ENSP00000432465.1:n.314+5924_314+5927dup
ENST00000375549.7:c.445_448dup	ENSP00000364699.3:p.Cys150TyrfsTer?
ENST00000525291.5:c.328_331dup	ENSP00000436669.1:p.Cys111TyrfsTer?
ENST00000525987.5:n.319+5924_319+5927dup
ENST00000526592.5:c.*143_*146dup	ENSP00000432005.1:n.*143_*146dup
ENST00000528021.5:c.314+5924_314+5927dup	ENSP00000432465.1:n.314+5924_314+5927dup
ENST00000528048.5:c.*42_*45dup	ENSP00000436217.1:n.*42_*45dup
ENST00000528182.5:c.*42_*45dup	ENSP00000435475.1:n.*42_*45dup
ENST00000530923.5:c.489_492dup
ENST00000531744.5:c.314+5924_314+5927dup	ENSP00000456957.1:n.314+5924_314+5927dup
ENST00000532699.1:c.314+5924_314+5927dup	ENSP00000456434.1:n.314+5924_314+5927dup
ENST00000534010.1:c.145+5924_145+5927dup
NM_001276503.1:c.*42_*45dup	NP_001263432.1:n.*42_*45dup
NM_001276504.1:c.328_331dup	NP_001263433.1:p.Cys111TyrfsTer?
NM_001276506.1:c.*143_*146dup	NP_001263435.1:n.*143_*146dup
NM_003002.3:c.445_448dup	NP_002993.1:p.Cys150TyrfsTer?
NR_077060.1:n.583_586dup
NM_003002.4:c.445_448dup MANE Select	NP_002993.1:p.Cys150TyrfsTer?
NM_001276503.2:c.*42_*45dup	NP_001263432.1:n.*42_*45dup
NM_001276504.2:c.328_331dup	NP_001263433.1:p.Cys111TyrfsTer?
NM_001276506.2:c.*143_*146dup	NP_001263435.1:n.*143_*146dup
NR_077060.2:n.534_537dup