Canonical Allele Identifier: CA338271081

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1711215
• ClinVar RCV Id: RCV002292731
• MyVariant Identifiers: chr1:g.17350513G>C (hg19) ; chr1:g.17024018G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17024018G>C , CM000663.2:g.17024018G>C	GRCh38
NC_000001.10:g.17350513G>C , CM000663.1:g.17350513G>C	GRCh37
NC_000001.9:g.17223100G>C	NCBI36
NG_012340.1:g.35153C>G , LRG_316:g.35153C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.426C>G	ENSP00000481376.2:p.Tyr142Ter
ENST00000491274.6:c.555C>G	ENSP00000480482.2:p.Tyr185Ter
ENST00000375499.8:c.597C>G MANE Select	ENSP00000364649.3:p.Tyr199Ter
ENST00000375499.7:c.597C>G	ENSP00000364649.3:p.Tyr199Ter
ENST00000485515.5:n.531C>G
ENST00000491274.5:c.555C>G	ENSP00000480482.1:p.Tyr185Ter
NM_003000.2:c.597C>G , LRG_316t1:c.597C>G	NP_002991.2:p.Tyr199Ter
NM_003000.3:c.597C>G MANE Select	NP_002991.2:p.Tyr199Ter