Canonical Allele Identifier: CA382619040

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1734455
• ClinVar RCV Id: RCV002349225
• MyVariant Identifiers: chr11:g.111965587A>G (hg19) ; chr11:g.112094863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094863A>G , CM000673.2:g.112094863A>G	GRCh38
NC_000011.9:g.111965587A>G , CM000673.1:g.111965587A>G	GRCh37
NC_000011.8:g.111470797A>G	NCBI36
NG_012337.2:g.13017A>G
NG_012337.3:g.13017A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*112A>G	ENSP00000432946.2:n.*112A>G
ENST00000534010.2:c.314+5852A>G	ENSP00000433202.2:n.314+5852A>G
ENST00000375549.8:c.373A>G MANE Select	ENSP00000364699.3:p.Lys125Glu
ENST00000528021.6:c.314+5852A>G	ENSP00000432465.1:n.314+5852A>G
ENST00000375549.7:c.373A>G	ENSP00000364699.3:p.Lys125Glu
ENST00000525291.5:c.256A>G	ENSP00000436669.1:p.Lys86Glu
ENST00000525987.5:n.319+5852A>G
ENST00000526592.5:c.*71A>G	ENSP00000432005.1:n.*71A>G
ENST00000528021.5:c.314+5852A>G	ENSP00000432465.1:n.314+5852A>G
ENST00000528048.5:c.228A>G	ENSP00000436217.1:p.Pro76=
ENST00000528182.5:c.366A>G	ENSP00000435475.1:p.Pro122=
ENST00000530923.5:c.417A>G
ENST00000531744.5:c.314+5852A>G	ENSP00000456957.1:n.314+5852A>G
ENST00000532699.1:c.314+5852A>G	ENSP00000456434.1:n.314+5852A>G
ENST00000534010.1:c.145+5852A>G
NM_001276503.1:c.228A>G	NP_001263432.1:p.Pro76=
NM_001276504.1:c.256A>G	NP_001263433.1:p.Lys86Glu
NM_001276506.1:c.*71A>G	NP_001263435.1:n.*71A>G
NM_003002.3:c.373A>G	NP_002993.1:p.Lys125Glu
NR_077060.1:n.511A>G
NM_003002.4:c.373A>G MANE Select	NP_002993.1:p.Lys125Glu
NM_001276503.2:c.228A>G	NP_001263432.1:p.Pro76=
NM_001276504.2:c.256A>G	NP_001263433.1:p.Lys86Glu
NM_001276506.2:c.*71A>G	NP_001263435.1:n.*71A>G
NR_077060.2:n.462A>G