Canonical Allele Identifier: CA338273338

Gene: SDHB

Linked Data

• ClinVar Variation Id: 999196
• ClinVar RCV Id: RCV001295161 ; RCV002327633
• dbSNP Id: rs2078000133
• MyVariant Identifiers: chr1:g.17354342C>T (hg19) ; chr1:g.17027847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027847C>T , CM000663.2:g.17027847C>T	GRCh38
NC_000001.10:g.17354342C>T , CM000663.1:g.17354342C>T	GRCh37
NC_000001.9:g.17226929C>T	NCBI36
NG_012340.1:g.31324G>A , LRG_316:g.31324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.271G>A	ENSP00000481376.2:p.Ala91Thr
ENST00000491274.6:c.400G>A	ENSP00000480482.2:p.Ala134Thr
ENST00000375499.8:c.442G>A MANE Select	ENSP00000364649.3:p.Ala148Thr
ENST00000375499.7:c.442G>A	ENSP00000364649.3:p.Ala148Thr
ENST00000463045.2:c.271G>A	ENSP00000481376.1:p.Ala91Thr
ENST00000475506.1:n.359G>A
ENST00000485515.5:n.376G>A
ENST00000491274.5:c.400G>A	ENSP00000480482.1:p.Ala134Thr
NM_003000.2:c.442G>A , LRG_316t1:c.442G>A	NP_002991.2:p.Ala148Thr
NM_003000.3:c.442G>A MANE Select	NP_002991.2:p.Ala148Thr