Canonical Allele Identifier: CA521039088

Gene: SDHB

Linked Data

• dbSNP Id: rs1348459415
• gnomAD v2: 1-17354117-G-T
• gnomAD v3: 1-17027622-G-T
• gnomAD v4: 1-17027622-G-T
• MyVariant Identifiers: chr1:g.17354117G>T (hg19) ; chr1:g.17027622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027622G>T , CM000663.2:g.17027622G>T	GRCh38
NC_000001.10:g.17354117G>T , CM000663.1:g.17354117G>T	GRCh37
NC_000001.9:g.17226704G>T	NCBI36
NG_012340.1:g.31549C>A , LRG_316:g.31549C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.369+127C>A	ENSP00000481376.2:n.369+127C>A
ENST00000491274.6:c.498+127C>A	ENSP00000480482.2:n.498+127C>A
ENST00000375499.8:c.540+127C>A MANE Select	ENSP00000364649.3:n.540+127C>A
ENST00000375499.7:c.540+127C>A	ENSP00000364649.3:n.540+127C>A
ENST00000485515.5:n.474+127C>A
ENST00000491274.5:c.498+127C>A	ENSP00000480482.1:n.498+127C>A
NM_003000.2:c.540+127C>A , LRG_316t1:c.540+127C>A	NP_002991.2:n.540+127C>A
NM_003000.3:c.540+127C>A MANE Select	NP_002991.2:n.540+127C>A