Canonical Allele Identifier: CA382617293

Gene: SDHD

Linked Data

• ClinVar Variation Id: 438435
• ClinVar RCV Id: RCV000505381 ; RCV001857228
• dbSNP Id: rs1555187010
• MyVariant Identifiers: chr11:g.111959660T>G (hg19) ; chr11:g.112088936T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088936T>G , CM000673.2:g.112088936T>G	GRCh38
NC_000011.9:g.111959660T>G , CM000673.1:g.111959660T>G	GRCh37
NC_000011.8:g.111464870T>G	NCBI36
NG_012337.2:g.7090T>G
NG_033145.1:g.2863A>C
NG_012337.3:g.7090T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.239T>G	ENSP00000432946.2:p.Leu80Arg
ENST00000534010.2:c.239T>G	ENSP00000433202.2:p.Leu80Arg
ENST00000375549.8:c.239T>G MANE Select	ENSP00000364699.3:p.Leu80Arg
ENST00000528021.6:c.239T>G	ENSP00000432465.1:p.Leu80Arg
ENST00000640554.1:c.*311T>G	ENSP00000491141.1:n.*311T>G
ENST00000375549.7:c.239T>G	ENSP00000364699.3:p.Leu80Arg
ENST00000525291.5:c.122T>G	ENSP00000436669.1:p.Leu41Arg
ENST00000525987.5:n.244T>G
ENST00000526592.5:c.239T>G	ENSP00000432005.1:p.Leu80Arg
ENST00000528021.5:c.239T>G	ENSP00000432465.1:p.Leu80Arg
ENST00000528048.5:c.169+963T>G	ENSP00000436217.1:n.169+963T>G
ENST00000528182.5:c.239T>G	ENSP00000435475.1:p.Leu80Arg
ENST00000530923.5:c.229T>G
ENST00000531744.5:c.239T>G	ENSP00000456957.1:p.Leu80Arg
ENST00000532699.1:c.239T>G	ENSP00000456434.1:p.Leu80Arg
ENST00000534010.1:c.70T>G
ENST00000614349.4:c.239T>G	ENSP00000480666.1:p.Leu80Arg
NM_001276503.1:c.169+963T>G	NP_001263432.1:n.169+963T>G
NM_001276504.1:c.122T>G	NP_001263433.1:p.Leu41Arg
NM_001276506.1:c.239T>G	NP_001263435.1:p.Leu80Arg
NM_003002.3:c.239T>G	NP_002993.1:p.Leu80Arg
NR_077060.1:n.323T>G
NM_003002.4:c.239T>G MANE Select	NP_002993.1:p.Leu80Arg
NM_001276503.2:c.169+963T>G	NP_001263432.1:n.169+963T>G
NM_001276504.2:c.122T>G	NP_001263433.1:p.Leu41Arg
NM_001276506.2:c.239T>G	NP_001263435.1:p.Leu80Arg
NR_077060.2:n.274T>G