Canonical Allele Identifier: CA338270225
Gene: SDHB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022654A>T , CM000663.2:g.17022654A>T GRCh38
NC_000001.10:g.17349149A>T , CM000663.1:g.17349149A>T GRCh37
NC_000001.9:g.17221736A>T NCBI36
NG_012340.1:g.36517T>A , LRG_316:g.36517T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.548T>A ENSP00000481376.2:p.Leu183Gln
ENST00000491274.6:c.677T>A ENSP00000480482.2:p.Leu226Gln
ENST00000375499.8:c.719T>A MANE Select ENSP00000364649.3:p.Leu240Gln
ENST00000375499.7:c.719T>A ENSP00000364649.3:p.Leu240Gln
ENST00000475049.5:n.144T>A
ENST00000485092.5:n.383T>A
ENST00000485515.5:n.653T>A
NM_003000.2:c.719T>A , LRG_316t1:c.719T>A NP_002991.2:p.Leu240Gln
NM_003000.3:c.719T>A MANE Select NP_002991.2:p.Leu240Gln