Canonical Allele Identifier: CA338228249

Gene: SDHB

Linked Data

• gnomAD v4: 1-17044843-T-C
• MyVariant Identifiers: chr1:g.17371338T>C (hg19) ; chr1:g.17044843T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044843T>C , CM000663.2:g.17044843T>C	GRCh38
NC_000001.10:g.17371338T>C , CM000663.1:g.17371338T>C	GRCh37
NC_000001.9:g.17243925T>C	NCBI36
NG_012340.1:g.14328A>G , LRG_316:g.14328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-54A>G	ENSP00000481376.2:n.-54A>G
ENST00000491274.6:c.76A>G	ENSP00000480482.2:p.Lys26Glu
ENST00000375499.8:c.118A>G MANE Select	ENSP00000364649.3:p.Lys40Glu
ENST00000375499.7:c.118A>G	ENSP00000364649.3:p.Lys40Glu
ENST00000463045.2:c.-54A>G	ENSP00000481376.1:n.-54A>G
ENST00000466613.2:n.130A>G
ENST00000475506.1:n.35A>G
ENST00000485515.5:n.106A>G
ENST00000491274.5:c.76A>G	ENSP00000480482.1:p.Lys26Glu
NM_003000.2:c.118A>G , LRG_316t1:c.118A>G	NP_002991.2:p.Lys40Glu
NM_003000.3:c.118A>G MANE Select	NP_002991.2:p.Lys40Glu