Canonical Allele Identifier: CA338269959

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1759965
• ClinVar RCV Id: RCV002396383
• MyVariant Identifiers: chr1:g.17349104T>C (hg19) ; chr1:g.17022609T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022609T>C , CM000663.2:g.17022609T>C	GRCh38
NC_000001.10:g.17349104T>C , CM000663.1:g.17349104T>C	GRCh37
NC_000001.9:g.17221691T>C	NCBI36
NG_012340.1:g.36562A>G , LRG_316:g.36562A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.593A>G	ENSP00000481376.2:p.Lys198Arg
ENST00000491274.6:c.722A>G	ENSP00000480482.2:p.Lys241Arg
ENST00000375499.8:c.764A>G MANE Select	ENSP00000364649.3:p.Lys255Arg
ENST00000375499.7:c.764A>G	ENSP00000364649.3:p.Lys255Arg
ENST00000475049.5:n.189A>G
ENST00000485092.5:n.428A>G
ENST00000485515.5:n.698A>G
NM_003000.2:c.764A>G , LRG_316t1:c.764A>G	NP_002991.2:p.Lys255Arg
NM_003000.3:c.764A>G MANE Select	NP_002991.2:p.Lys255Arg