Canonical Allele Identifier: CA16609941

Gene: SDHB

Linked Data

• ClinVar Variation Id: 412476
• ClinVar RCV Id: RCV000460882
• dbSNP Id: rs1060503763
• MyVariant Identifiers: chr1:g.17354343A>C (hg19) ; chr1:g.17027848A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027848A>C , CM000663.2:g.17027848A>C	GRCh38
NC_000001.10:g.17354343A>C , CM000663.1:g.17354343A>C	GRCh37
NC_000001.9:g.17226930A>C	NCBI36
NG_012340.1:g.31323T>G , LRG_316:g.31323T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.270T>G	ENSP00000481376.2:p.Tyr90Ter
ENST00000491274.6:c.399T>G	ENSP00000480482.2:p.Tyr133Ter
ENST00000375499.8:c.441T>G MANE Select	ENSP00000364649.3:p.Tyr147Ter
ENST00000375499.7:c.441T>G	ENSP00000364649.3:p.Tyr147Ter
ENST00000463045.2:c.270T>G	ENSP00000481376.1:p.Tyr90Ter
ENST00000475506.1:n.358T>G
ENST00000485515.5:n.375T>G
ENST00000491274.5:c.399T>G	ENSP00000480482.1:p.Tyr133Ter
NM_003000.2:c.441T>G , LRG_316t1:c.441T>G	NP_002991.2:p.Tyr147Ter
NM_003000.3:c.441T>G MANE Select	NP_002991.2:p.Tyr147Ter