Canonical Allele Identifier: CA382617191

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2952268
• ClinVar RCV Id: RCV003815419
• MyVariant Identifiers: chr11:g.111959611C>G (hg19) ; chr11:g.112088887C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088887C>G , CM000673.2:g.112088887C>G	GRCh38
NC_000011.9:g.111959611C>G , CM000673.1:g.111959611C>G	GRCh37
NC_000011.8:g.111464821C>G	NCBI36
NG_012337.2:g.7041C>G
NG_033145.1:g.2912G>C
NG_012337.3:g.7041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.190C>G	ENSP00000432946.2:p.Leu64Val
ENST00000534010.2:c.190C>G	ENSP00000433202.2:p.Leu64Val
ENST00000375549.8:c.190C>G MANE Select	ENSP00000364699.3:p.Leu64Val
ENST00000528021.6:c.190C>G	ENSP00000432465.1:p.Leu64Val
ENST00000640554.1:c.*262C>G	ENSP00000491141.1:n.*262C>G
ENST00000375549.7:c.190C>G	ENSP00000364699.3:p.Leu64Val
ENST00000525291.5:c.73C>G	ENSP00000436669.1:p.Leu25Val
ENST00000525987.5:n.195C>G
ENST00000526592.5:c.190C>G	ENSP00000432005.1:p.Leu64Val
ENST00000528021.5:c.190C>G	ENSP00000432465.1:p.Leu64Val
ENST00000528048.5:c.169+914C>G	ENSP00000436217.1:n.169+914C>G
ENST00000528182.5:c.190C>G	ENSP00000435475.1:p.Leu64Val
ENST00000530923.5:c.180C>G
ENST00000531744.5:c.190C>G	ENSP00000456957.1:p.Leu64Val
ENST00000532699.1:c.190C>G	ENSP00000456434.1:p.Leu64Val
ENST00000534010.1:c.21C>G
ENST00000614349.4:c.190C>G	ENSP00000480666.1:p.Leu64Val
NM_001276503.1:c.169+914C>G	NP_001263432.1:n.169+914C>G
NM_001276504.1:c.73C>G	NP_001263433.1:p.Leu25Val
NM_001276506.1:c.190C>G	NP_001263435.1:p.Leu64Val
NM_003002.3:c.190C>G	NP_002993.1:p.Leu64Val
NR_077060.1:n.274C>G
NM_003002.4:c.190C>G MANE Select	NP_002993.1:p.Leu64Val
NM_001276503.2:c.169+914C>G	NP_001263432.1:n.169+914C>G
NM_001276504.2:c.73C>G	NP_001263433.1:p.Leu25Val
NM_001276506.2:c.190C>G	NP_001263435.1:p.Leu64Val
NR_077060.2:n.225C>G