Canonical Allele Identifier: CA999084713

Gene: SDHB

Linked Data

• dbSNP Id: rs2078006206
• gnomAD v3: 1-17028848-C-A
• gnomAD v4: 1-17028848-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028848C>A , CM000663.2:g.17028848C>A	GRCh38
NC_000001.10:g.17355343C>A , CM000663.1:g.17355343C>A	GRCh37
NC_000001.9:g.17227930C>A	NCBI36
NG_012340.1:g.30323G>T , LRG_316:g.30323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.116-112G>T	ENSP00000481376.2:n.116-112G>T
ENST00000491274.6:c.245-112G>T	ENSP00000480482.2:n.245-112G>T
ENST00000375499.8:c.287-112G>T MANE Select	ENSP00000364649.3:n.287-112G>T
ENST00000375499.7:c.287-112G>T	ENSP00000364649.3:n.287-112G>T
ENST00000463045.2:c.116-112G>T	ENSP00000481376.1:n.116-112G>T
ENST00000475506.1:n.204-112G>T
ENST00000485515.5:n.275-112G>T
ENST00000491274.5:c.245-112G>T	ENSP00000480482.1:n.245-112G>T
NM_003000.2:c.287-112G>T , LRG_316t1:c.287-112G>T	NP_002991.2:n.287-112G>T
NM_003000.3:c.287-112G>T MANE Select	NP_002991.2:n.287-112G>T