Canonical Allele Identifier: CA338273147

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1741248
• ClinVar RCV Id: RCV002340028
• MyVariant Identifiers: chr1:g.17354332T>G (hg19) ; chr1:g.17027837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027837T>G , CM000663.2:g.17027837T>G	GRCh38
NC_000001.10:g.17354332T>G , CM000663.1:g.17354332T>G	GRCh37
NC_000001.9:g.17226919T>G	NCBI36
NG_012340.1:g.31334A>C , LRG_316:g.31334A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.281A>C	ENSP00000481376.2:p.Lys94Thr
ENST00000491274.6:c.410A>C	ENSP00000480482.2:p.Lys137Thr
ENST00000375499.8:c.452A>C MANE Select	ENSP00000364649.3:p.Lys151Thr
ENST00000375499.7:c.452A>C	ENSP00000364649.3:p.Lys151Thr
ENST00000463045.2:c.281A>C	ENSP00000481376.1:p.Lys94Thr
ENST00000475506.1:n.369A>C
ENST00000485515.5:n.386A>C
ENST00000491274.5:c.410A>C	ENSP00000480482.1:p.Lys137Thr
NM_003000.2:c.452A>C , LRG_316t1:c.452A>C	NP_002991.2:p.Lys151Thr
NM_003000.3:c.452A>C MANE Select	NP_002991.2:p.Lys151Thr