Canonical Allele Identifier: CA338273312

Gene: SDHB

Linked Data

• ClinVar Variation Id: 824893
• ClinVar RCV Id: RCV001022480
• dbSNP Id: rs1570947996
• MyVariant Identifiers: chr1:g.17354341G>A (hg19) ; chr1:g.17027846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027846G>A , CM000663.2:g.17027846G>A	GRCh38
NC_000001.10:g.17354341G>A , CM000663.1:g.17354341G>A	GRCh37
NC_000001.9:g.17226928G>A	NCBI36
NG_012340.1:g.31325C>T , LRG_316:g.31325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.272C>T	ENSP00000481376.2:p.Ala91Val
ENST00000491274.6:c.401C>T	ENSP00000480482.2:p.Ala134Val
ENST00000375499.8:c.443C>T MANE Select	ENSP00000364649.3:p.Ala148Val
ENST00000375499.7:c.443C>T	ENSP00000364649.3:p.Ala148Val
ENST00000463045.2:c.272C>T	ENSP00000481376.1:p.Ala91Val
ENST00000475506.1:n.360C>T
ENST00000485515.5:n.377C>T
ENST00000491274.5:c.401C>T	ENSP00000480482.1:p.Ala134Val
NM_003000.2:c.443C>T , LRG_316t1:c.443C>T	NP_002991.2:p.Ala148Val
NM_003000.3:c.443C>T MANE Select	NP_002991.2:p.Ala148Val