Canonical Allele Identifier: CA338270932

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2945656
• ClinVar RCV Id: RCV003803750
• MyVariant Identifiers: chr1:g.17350472A>C (hg19) ; chr1:g.17023977A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.467T>G	ENSP00000481376.2:p.Met156Arg
ENST00000491274.6:c.596T>G	ENSP00000480482.2:p.Met199Arg
ENST00000375499.8:c.638T>G MANE Select	ENSP00000364649.3:p.Met213Arg
ENST00000375499.7:c.638T>G	ENSP00000364649.3:p.Met213Arg
ENST00000485515.5:n.572T>G
ENST00000491274.5:c.596T>G	ENSP00000480482.1:p.Met199Arg
NM_003000.2:c.638T>G , LRG_316t1:c.638T>G	NP_002991.2:p.Met213Arg
NM_003000.3:c.638T>G MANE Select	NP_002991.2:p.Met213Arg