Canonical Allele Identifier: CA338274313

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2625087
• ClinVar RCV Id: RCV003377766
• MyVariant Identifiers: chr1:g.17355134G>T (hg19) ; chr1:g.17028639G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028639G>T , CM000663.2:g.17028639G>T	GRCh38
NC_000001.10:g.17355134G>T , CM000663.1:g.17355134G>T	GRCh37
NC_000001.9:g.17227721G>T	NCBI36
NG_012340.1:g.30532C>A , LRG_316:g.30532C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.213C>A	ENSP00000481376.2:p.Tyr71Ter
ENST00000491274.6:c.342C>A	ENSP00000480482.2:p.Tyr114Ter
ENST00000375499.8:c.384C>A MANE Select	ENSP00000364649.3:p.Tyr128Ter
ENST00000375499.7:c.384C>A	ENSP00000364649.3:p.Tyr128Ter
ENST00000463045.2:c.213C>A	ENSP00000481376.1:p.Tyr71Ter
ENST00000475506.1:n.301C>A
ENST00000485515.5:n.357+15C>A
ENST00000491274.5:c.342C>A	ENSP00000480482.1:p.Tyr114Ter
NM_003000.2:c.384C>A , LRG_316t1:c.384C>A	NP_002991.2:p.Tyr128Ter
NM_003000.3:c.384C>A MANE Select	NP_002991.2:p.Tyr128Ter