Canonical Allele Identifier: CA338271072

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2942599
• ClinVar RCV Id: RCV003807765
• MyVariant Identifiers: chr1:g.17350512A>C (hg19) ; chr1:g.17024017A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17024017A>C , CM000663.2:g.17024017A>C	GRCh38
NC_000001.10:g.17350512A>C , CM000663.1:g.17350512A>C	GRCh37
NC_000001.9:g.17223099A>C	NCBI36
NG_012340.1:g.35154T>G , LRG_316:g.35154T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.427T>G	ENSP00000481376.2:p.Trp143Gly
ENST00000491274.6:c.556T>G	ENSP00000480482.2:p.Trp186Gly
ENST00000375499.8:c.598T>G MANE Select	ENSP00000364649.3:p.Trp200Gly
ENST00000375499.7:c.598T>G	ENSP00000364649.3:p.Trp200Gly
ENST00000485515.5:n.532T>G
ENST00000491274.5:c.556T>G	ENSP00000480482.1:p.Trp186Gly
NM_003000.2:c.598T>G , LRG_316t1:c.598T>G	NP_002991.2:p.Trp200Gly
NM_003000.3:c.598T>G MANE Select	NP_002991.2:p.Trp200Gly