Canonical Allele Identifier: CA338272431

Gene: SDHB

Linked Data

• ClinVar Variation Id: 941676
• ClinVar RCV Id: RCV001211513
• dbSNP Id: rs2077999274
• MyVariant Identifiers: chr1:g.17354250C>A (hg19) ; chr1:g.17027755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027755C>A , CM000663.2:g.17027755C>A	GRCh38
NC_000001.10:g.17354250C>A , CM000663.1:g.17354250C>A	GRCh37
NC_000001.9:g.17226837C>A	NCBI36
NG_012340.1:g.31416G>T , LRG_316:g.31416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.363G>T	ENSP00000481376.2:p.Glu121Asp
ENST00000491274.6:c.492G>T	ENSP00000480482.2:p.Glu164Asp
ENST00000375499.8:c.534G>T MANE Select	ENSP00000364649.3:p.Glu178Asp
ENST00000375499.7:c.534G>T	ENSP00000364649.3:p.Glu178Asp
ENST00000463045.2:c.363G>T	ENSP00000481376.1:p.Glu121Asp
ENST00000475506.1:n.451G>T
ENST00000485515.5:n.468G>T
ENST00000491274.5:c.492G>T	ENSP00000480482.1:p.Glu164Asp
NM_003000.2:c.534G>T , LRG_316t1:c.534G>T	NP_002991.2:p.Glu178Asp
NM_003000.3:c.534G>T MANE Select	NP_002991.2:p.Glu178Asp