Canonical Allele Identifier: CA089586

Gene: SDHB

Linked Data

• dbSNP Id: rs752361543
• ExAC: 1:17355199 C / T
• gnomAD v2: 1-17355199-C-T
• MyVariant Identifiers: chr1:g.17355199C>T (hg19) ; chr1:g.17028704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028704C>T , CM000663.2:g.17028704C>T	GRCh38
NC_000001.10:g.17355199C>T , CM000663.1:g.17355199C>T	GRCh37
NC_000001.9:g.17227786C>T	NCBI36
NG_012340.1:g.30467G>A , LRG_316:g.30467G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.148G>A	ENSP00000481376.2:p.Gly50Arg
ENST00000491274.6:c.277G>A	ENSP00000480482.2:p.Gly93Arg
ENST00000375499.8:c.319G>A MANE Select	ENSP00000364649.3:p.Gly107Arg
ENST00000375499.7:c.319G>A	ENSP00000364649.3:p.Gly107Arg
ENST00000463045.2:c.148G>A	ENSP00000481376.1:p.Gly50Arg
ENST00000475506.1:n.236G>A
ENST00000485515.5:n.307G>A
ENST00000491274.5:c.277G>A	ENSP00000480482.1:p.Gly93Arg
NM_003000.2:c.319G>A , LRG_316t1:c.319G>A	NP_002991.2:p.Gly107Arg
NM_003000.3:c.319G>A MANE Select	NP_002991.2:p.Gly107Arg