Canonical Allele Identifier: CA071246

Gene: SDHD

Linked Data

• ClinVar Variation Id: 412515
• ClinVar RCV Id: RCV000565076 ; RCV001591105 ; RCV002230665 ; RCV003325203 ; RCV003476144
• dbSNP Id: rs201869798
• ExAC: 11:111965545 G / A
• gnomAD v2: 11-111965545-G-A
• gnomAD v3: 11-112094821-G-A
• gnomAD v4: 11-112094821-G-A
• MyVariant Identifiers: chr11:g.111965545G>A (hg19) ; chr11:g.112094821G>A (hg38)
• PubMed: PMID:17308434

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094821G>A , CM000673.2:g.112094821G>A	GRCh38
NC_000011.9:g.111965545G>A , CM000673.1:g.111965545G>A	GRCh37
NC_000011.8:g.111470755G>A	NCBI36
NG_012337.2:g.12975G>A
NG_012337.3:g.12975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*70G>A	ENSP00000432946.2:n.*70G>A
ENST00000534010.2:c.314+5810G>A	ENSP00000433202.2:n.314+5810G>A
ENST00000375549.8:c.331G>A MANE Select	ENSP00000364699.3:p.Val111Ile
ENST00000528021.6:c.314+5810G>A	ENSP00000432465.1:n.314+5810G>A
ENST00000375549.7:c.331G>A	ENSP00000364699.3:p.Val111Ile
ENST00000525291.5:c.214G>A	ENSP00000436669.1:p.Val72Ile
ENST00000525987.5:n.319+5810G>A
ENST00000526592.5:c.*29G>A	ENSP00000432005.1:n.*29G>A
ENST00000528021.5:c.314+5810G>A	ENSP00000432465.1:n.314+5810G>A
ENST00000528048.5:c.186G>A	ENSP00000436217.1:p.Leu62=
ENST00000528182.5:c.324G>A	ENSP00000435475.1:p.Leu108=
ENST00000530923.5:c.375G>A
ENST00000531744.5:c.314+5810G>A	ENSP00000456957.1:n.314+5810G>A
ENST00000532699.1:c.314+5810G>A	ENSP00000456434.1:n.314+5810G>A
ENST00000534010.1:c.145+5810G>A
NM_001276503.1:c.186G>A	NP_001263432.1:p.Leu62=
NM_001276504.1:c.214G>A	NP_001263433.1:p.Val72Ile
NM_001276506.1:c.*29G>A	NP_001263435.1:n.*29G>A
NM_003002.3:c.331G>A	NP_002993.1:p.Val111Ile
NR_077060.1:n.469G>A
NM_003002.4:c.331G>A MANE Select	NP_002993.1:p.Val111Ile
NM_001276503.2:c.186G>A	NP_001263432.1:p.Leu62=
NM_001276504.2:c.214G>A	NP_001263433.1:p.Val72Ile
NM_001276506.2:c.*29G>A	NP_001263435.1:n.*29G>A
NR_077060.2:n.420G>A