Canonical Allele Identifier: CA338271405
Gene: SDHB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17024061T>A , CM000663.2:g.17024061T>A GRCh38
NC_000001.10:g.17350556T>A , CM000663.1:g.17350556T>A GRCh37
NC_000001.9:g.17223143T>A NCBI36
NG_012340.1:g.35110A>T , LRG_316:g.35110A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.383A>T ENSP00000481376.2:p.Glu128Val
ENST00000491274.6:c.512A>T ENSP00000480482.2:p.Glu171Val
ENST00000375499.8:c.554A>T MANE Select ENSP00000364649.3:p.Glu185Val
ENST00000375499.7:c.554A>T ENSP00000364649.3:p.Glu185Val
ENST00000485515.5:n.488A>T
ENST00000491274.5:c.512A>T ENSP00000480482.1:p.Glu171Val
NM_003000.2:c.554A>T , LRG_316t1:c.554A>T NP_002991.2:p.Glu185Val
NM_003000.3:c.554A>T MANE Select NP_002991.2:p.Glu185Val