Canonical Allele Identifier: CA338270226
Gene: SDHB HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.548T>G ENSP00000481376.2:p.Leu183Arg
ENST00000491274.6:c.677T>G ENSP00000480482.2:p.Leu226Arg
ENST00000375499.8:c.719T>G MANE Select ENSP00000364649.3:p.Leu240Arg
ENST00000375499.7:c.719T>G ENSP00000364649.3:p.Leu240Arg
ENST00000475049.5:n.144T>G
ENST00000485092.5:n.383T>G
ENST00000485515.5:n.653T>G
NM_003000.2:c.719T>G , LRG_316t1:c.719T>G NP_002991.2:p.Leu240Arg
NM_003000.3:c.719T>G MANE Select NP_002991.2:p.Leu240Arg