Canonical Allele Identifier: CA382619058

Gene: SDHD

Linked Data

• ClinVar Variation Id: 824183
• ClinVar RCV Id: RCV001021091 ; RCV001861004
• dbSNP Id: rs1592786265
• MyVariant Identifiers: chr11:g.111965590G>A (hg19) ; chr11:g.112094866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094866G>A , CM000673.2:g.112094866G>A	GRCh38
NC_000011.9:g.111965590G>A , CM000673.1:g.111965590G>A	GRCh37
NC_000011.8:g.111470800G>A	NCBI36
NG_012337.2:g.13020G>A
NG_012337.3:g.13020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*115G>A	ENSP00000432946.2:n.*115G>A
ENST00000534010.2:c.314+5855G>A	ENSP00000433202.2:n.314+5855G>A
ENST00000375549.8:c.376G>A MANE Select	ENSP00000364699.3:p.Ala126Thr
ENST00000528021.6:c.314+5855G>A	ENSP00000432465.1:n.314+5855G>A
ENST00000375549.7:c.376G>A	ENSP00000364699.3:p.Ala126Thr
ENST00000525291.5:c.259G>A	ENSP00000436669.1:p.Ala87Thr
ENST00000525987.5:n.319+5855G>A
ENST00000526592.5:c.*74G>A	ENSP00000432005.1:n.*74G>A
ENST00000528021.5:c.314+5855G>A	ENSP00000432465.1:n.314+5855G>A
ENST00000528048.5:c.231G>A	ENSP00000436217.1:p.Arg77=
ENST00000528182.5:c.369G>A	ENSP00000435475.1:p.Arg123=
ENST00000530923.5:c.420G>A
ENST00000531744.5:c.314+5855G>A	ENSP00000456957.1:n.314+5855G>A
ENST00000532699.1:c.314+5855G>A	ENSP00000456434.1:n.314+5855G>A
ENST00000534010.1:c.145+5855G>A
NM_001276503.1:c.231G>A	NP_001263432.1:p.Arg77=
NM_001276504.1:c.259G>A	NP_001263433.1:p.Ala87Thr
NM_001276506.1:c.*74G>A	NP_001263435.1:n.*74G>A
NM_003002.3:c.376G>A	NP_002993.1:p.Ala126Thr
NR_077060.1:n.514G>A
NM_003002.4:c.376G>A MANE Select	NP_002993.1:p.Ala126Thr
NM_001276503.2:c.231G>A	NP_001263432.1:p.Arg77=
NM_001276504.2:c.259G>A	NP_001263433.1:p.Ala87Thr
NM_001276506.2:c.*74G>A	NP_001263435.1:n.*74G>A
NR_077060.2:n.465G>A