Canonical Allele Identifier: CA338272770

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2496765
• ClinVar RCV Id: RCV003216342
• MyVariant Identifiers: chr1:g.17354299T>A (hg19) ; chr1:g.17027804T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027804T>A , CM000663.2:g.17027804T>A	GRCh38
NC_000001.10:g.17354299T>A , CM000663.1:g.17354299T>A	GRCh37
NC_000001.9:g.17226886T>A	NCBI36
NG_012340.1:g.31367A>T , LRG_316:g.31367A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.314A>T	ENSP00000481376.2:p.Glu105Val
ENST00000491274.6:c.443A>T	ENSP00000480482.2:p.Glu148Val
ENST00000375499.8:c.485A>T MANE Select	ENSP00000364649.3:p.Glu162Val
ENST00000375499.7:c.485A>T	ENSP00000364649.3:p.Glu162Val
ENST00000463045.2:c.314A>T	ENSP00000481376.1:p.Glu105Val
ENST00000475506.1:n.402A>T
ENST00000485515.5:n.419A>T
ENST00000491274.5:c.443A>T	ENSP00000480482.1:p.Glu148Val
NM_003000.2:c.485A>T , LRG_316t1:c.485A>T	NP_002991.2:p.Glu162Val
NM_003000.3:c.485A>T MANE Select	NP_002991.2:p.Glu162Val