Canonical Allele Identifier: CA338272537
Gene: SDHB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027769T>G , CM000663.2:g.17027769T>G GRCh38
NC_000001.10:g.17354264T>G , CM000663.1:g.17354264T>G GRCh37
NC_000001.9:g.17226851T>G NCBI36
NG_012340.1:g.31402A>C , LRG_316:g.31402A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.349A>C ENSP00000481376.2:p.Ile117Leu
ENST00000491274.6:c.478A>C ENSP00000480482.2:p.Ile160Leu
ENST00000375499.8:c.520A>C MANE Select ENSP00000364649.3:p.Ile174Leu
ENST00000375499.7:c.520A>C ENSP00000364649.3:p.Ile174Leu
ENST00000463045.2:c.349A>C ENSP00000481376.1:p.Ile117Leu
ENST00000475506.1:n.437A>C
ENST00000485515.5:n.454A>C
ENST00000491274.5:c.478A>C ENSP00000480482.1:p.Ile160Leu
NM_003000.2:c.520A>C , LRG_316t1:c.520A>C NP_002991.2:p.Ile174Leu
NM_003000.3:c.520A>C MANE Select NP_002991.2:p.Ile174Leu