Canonical Allele Identifier: CA416087592

Gene: SDHB

Linked Data

• MyVariant Identifiers: chr1:g.17355128A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028633A>C , CM000663.2:g.17028633A>C	GRCh38
NC_000001.10:g.17355128A>C , CM000663.1:g.17355128A>C	GRCh37
NC_000001.9:g.17227715A>C	NCBI36
NG_012340.1:g.30538T>G , LRG_316:g.30538T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.219T>G	ENSP00000481376.2:p.Leu73=
ENST00000491274.6:c.348T>G	ENSP00000480482.2:p.Leu116=
ENST00000375499.8:c.390T>G MANE Select	ENSP00000364649.3:p.Leu130=
ENST00000375499.7:c.390T>G	ENSP00000364649.3:p.Leu130=
ENST00000463045.2:c.219T>G	ENSP00000481376.1:p.Leu73=
ENST00000475506.1:n.307T>G
ENST00000485515.5:n.357+21T>G
ENST00000491274.5:c.348T>G	ENSP00000480482.1:p.Leu116=
NM_003000.2:c.390T>G , LRG_316t1:c.390T>G	NP_002991.2:p.Leu130=
NM_003000.3:c.390T>G MANE Select	NP_002991.2:p.Leu130=