Canonical Allele Identifier: CA015910

Gene: SDHB

Linked Data

• ClinVar Variation Id: 12792
• ClinVar RCV Id: RCV000013633 ; RCV000034688 ; RCV000122002 ; RCV000132153 ; RCV000206861 ; RCV000202946 ; RCV000282667 ; RCV000986263 ; RCV001099292 ; RCV001269360
• dbSNP Id: rs33927012
• ExAC: 1:17354297 A / G
• gnomAD v2: 1-17354297-A-G
• gnomAD v3: 1-17027802-A-G
• gnomAD v4: 1-17027802-A-G
• MyVariant Identifiers: chr1:g.17354297A>G (hg19) ; chr1:g.17027802A>G (hg38)
• PubMed: PMID:14985401 ; PMID:16322339 ; PMID:16912137 ; PMID:17102082 ; PMID:17102083 ; PMID:17298551 ; PMID:17639058 ; PMID:18551016 ; PMID:18678321 ; PMID:19399650 ; PMID:19802898 ; PMID:21979946 ; PMID:22703879 ; PMID:23666964 ; PMID:23891399 ; PMID:24728327 ; PMID:25333069 ; PMID:26092435

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027802A>G , CM000663.2:g.17027802A>G	GRCh38
NC_000001.10:g.17354297A>G , CM000663.1:g.17354297A>G	GRCh37
NC_000001.9:g.17226884A>G	NCBI36
NG_012340.1:g.31369T>C , LRG_316:g.31369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.316T>C	ENSP00000481376.2:p.Ser106Pro
ENST00000491274.6:c.445T>C	ENSP00000480482.2:p.Ser149Pro
ENST00000375499.8:c.487T>C MANE Select	ENSP00000364649.3:p.Ser163Pro
ENST00000375499.7:c.487T>C	ENSP00000364649.3:p.Ser163Pro
ENST00000463045.2:c.316T>C	ENSP00000481376.1:p.Ser106Pro
ENST00000475506.1:n.404T>C
ENST00000485515.5:n.421T>C
ENST00000491274.5:c.445T>C	ENSP00000480482.1:p.Ser149Pro
NM_003000.2:c.487T>C , LRG_316t1:c.487T>C	NP_002991.2:p.Ser163Pro
NM_003000.3:c.487T>C MANE Select	NP_002991.2:p.Ser163Pro