Canonical Allele Identifier: CA338273912

Gene: SDHB

Linked Data

• MyVariant Identifiers: chr1:g.17355103G>T (hg19) ; chr1:g.17028608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028608G>T , CM000663.2:g.17028608G>T	GRCh38
NC_000001.10:g.17355103G>T , CM000663.1:g.17355103G>T	GRCh37
NC_000001.9:g.17227690G>T	NCBI36
NG_012340.1:g.30563C>A , LRG_316:g.30563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.244C>A	ENSP00000481376.2:p.Leu82Ile
ENST00000491274.6:c.373C>A	ENSP00000480482.2:p.Leu125Ile
ENST00000375499.8:c.415C>A MANE Select	ENSP00000364649.3:p.Leu139Ile
ENST00000375499.7:c.415C>A	ENSP00000364649.3:p.Leu139Ile
ENST00000463045.2:c.244C>A	ENSP00000481376.1:p.Leu82Ile
ENST00000475506.1:n.332C>A
ENST00000485515.5:n.357+46C>A
ENST00000491274.5:c.373C>A	ENSP00000480482.1:p.Leu125Ile
NM_003000.2:c.415C>A , LRG_316t1:c.415C>A	NP_002991.2:p.Leu139Ile
NM_003000.3:c.415C>A MANE Select	NP_002991.2:p.Leu139Ile