Canonical Allele Identifier: CA2000554420

Gene: SDHD

Linked Data

• dbSNP Id: rs1865821545
• gnomAD v4: 11-112095283-A-AGAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095284_112095288dup , CM000673.2:g.112095284_112095288dup	GRCh38
NC_000011.9:g.111966008_111966012dup , CM000673.1:g.111966008_111966012dup	GRCh37
NC_000011.8:g.111471218_111471222dup	NCBI36
NG_012337.2:g.13438_13442dup
NG_012337.3:g.13438_13442dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6273_314+6277dup	ENSP00000433202.2:n.314+6273_314+6277dup
ENST00000375549.8:c.*314_*318dup MANE Select	ENSP00000364699.3:n.*314_*318dup
ENST00000528021.6:c.314+6273_314+6277dup	ENSP00000432465.1:n.314+6273_314+6277dup
ENST00000375549.7:c.*314_*318dup	ENSP00000364699.3:n.*314_*318dup
ENST00000525291.5:c.*314_*318dup	ENSP00000436669.1:n.*314_*318dup
ENST00000525987.5:n.319+6273_319+6277dup
ENST00000528021.5:c.314+6273_314+6277dup	ENSP00000432465.1:n.314+6273_314+6277dup
ENST00000528048.5:c.*391_*395dup	ENSP00000436217.1:n.*391_*395dup
ENST00000531744.5:c.314+6273_314+6277dup	ENSP00000456957.1:n.314+6273_314+6277dup
ENST00000532699.1:c.314+6273_314+6277dup	ENSP00000456434.1:n.314+6273_314+6277dup
ENST00000534010.1:c.145+6273_145+6277dup
NM_001276503.1:c.*391_*395dup	NP_001263432.1:n.*391_*395dup
NM_001276504.1:c.*314_*318dup	NP_001263433.1:n.*314_*318dup
NM_001276506.1:c.*492_*496dup	NP_001263435.1:n.*492_*496dup
NM_003002.3:c.*314_*318dup	NP_002993.1:n.*314_*318dup
NR_077060.1:n.932_936dup
NM_003002.4:c.*314_*318dup MANE Select	NP_002993.1:n.*314_*318dup
NM_001276503.2:c.*391_*395dup	NP_001263432.1:n.*391_*395dup
NM_001276504.2:c.*314_*318dup	NP_001263433.1:n.*314_*318dup
NM_001276506.2:c.*492_*496dup	NP_001263435.1:n.*492_*496dup
NR_077060.2:n.883_887dup