Canonical Allele Identifier: CA338272772

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2099228
• ClinVar RCV Id: RCV003021616
• MyVariant Identifiers: chr1:g.17354299T>C (hg19) ; chr1:g.17027804T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.314A>G	ENSP00000481376.2:p.Glu105Gly
ENST00000491274.6:c.443A>G	ENSP00000480482.2:p.Glu148Gly
ENST00000375499.8:c.485A>G MANE Select	ENSP00000364649.3:p.Glu162Gly
ENST00000375499.7:c.485A>G	ENSP00000364649.3:p.Glu162Gly
ENST00000463045.2:c.314A>G	ENSP00000481376.1:p.Glu105Gly
ENST00000475506.1:n.402A>G
ENST00000485515.5:n.419A>G
ENST00000491274.5:c.443A>G	ENSP00000480482.1:p.Glu148Gly
NM_003000.2:c.485A>G , LRG_316t1:c.485A>G	NP_002991.2:p.Glu162Gly
NM_003000.3:c.485A>G MANE Select	NP_002991.2:p.Glu162Gly