Canonical Allele Identifier: CA016054

Gene: SDHB

Linked Data

• ClinVar Variation Id: 41771
• ClinVar RCV Id: RCV000034689 ; RCV000462266 ; RCV000708782 ; RCV002354184
• dbSNP Id: rs202014362
• ExAC: 1:17350472 A / G
• gnomAD v2: 1-17350472-A-G
• gnomAD v4: 1-17023977-A-G
• MyVariant Identifiers: chr1:g.17350472A>G (hg19) ; chr1:g.17023977A>G (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17023977A>G , CM000663.2:g.17023977A>G	GRCh38
NC_000001.10:g.17350472A>G , CM000663.1:g.17350472A>G	GRCh37
NC_000001.9:g.17223059A>G	NCBI36
NG_012340.1:g.35194T>C , LRG_316:g.35194T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.467T>C	ENSP00000481376.2:p.Met156Thr
ENST00000491274.6:c.596T>C	ENSP00000480482.2:p.Met199Thr
ENST00000375499.8:c.638T>C MANE Select	ENSP00000364649.3:p.Met213Thr
ENST00000375499.7:c.638T>C	ENSP00000364649.3:p.Met213Thr
ENST00000485515.5:n.572T>C
ENST00000491274.5:c.596T>C	ENSP00000480482.1:p.Met199Thr
NM_003000.2:c.638T>C , LRG_316t1:c.638T>C	NP_002991.2:p.Met213Thr
NM_003000.3:c.638T>C MANE Select	NP_002991.2:p.Met213Thr