Canonical Allele Identifier: CA416083565

Gene: SDHB

Linked Data

• ClinVar Variation Id: 757137
• ClinVar RCV Id: RCV001427443 ; RCV003353087
• dbSNP Id: rs1570945852
• MyVariant Identifiers: chr1:g.17350513G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.426C>T	ENSP00000481376.2:p.Tyr142=
ENST00000491274.6:c.555C>T	ENSP00000480482.2:p.Tyr185=
ENST00000375499.8:c.597C>T MANE Select	ENSP00000364649.3:p.Tyr199=
ENST00000375499.7:c.597C>T	ENSP00000364649.3:p.Tyr199=
ENST00000485515.5:n.531C>T
ENST00000491274.5:c.555C>T	ENSP00000480482.1:p.Tyr185=
NM_003000.2:c.597C>T , LRG_316t1:c.597C>T	NP_002991.2:p.Tyr199=
NM_003000.3:c.597C>T MANE Select	NP_002991.2:p.Tyr199=