Canonical Allele Identifier: CA338276578

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2951656
• ClinVar RCV Id: RCV003812343
• MyVariant Identifiers: chr1:g.17359608T>A (hg19) ; chr1:g.17033113T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17033113T>A , CM000663.2:g.17033113T>A	GRCh38
NC_000001.10:g.17359608T>A , CM000663.1:g.17359608T>A	GRCh37
NC_000001.9:g.17232195T>A	NCBI36
NG_012340.1:g.26058A>T , LRG_316:g.26058A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.62A>T	ENSP00000481376.2:p.Lys21Met
ENST00000491274.6:c.191A>T	ENSP00000480482.2:p.Lys64Met
ENST00000375499.8:c.233A>T MANE Select	ENSP00000364649.3:p.Lys78Met
ENST00000375499.7:c.233A>T	ENSP00000364649.3:p.Lys78Met
ENST00000463045.2:c.62A>T	ENSP00000481376.1:p.Lys21Met
ENST00000466613.2:n.245A>T
ENST00000475506.1:n.150A>T
ENST00000485515.5:n.221A>T
ENST00000491274.5:c.191A>T	ENSP00000480482.1:p.Lys64Met
NM_003000.2:c.233A>T , LRG_316t1:c.233A>T	NP_002991.2:p.Lys78Met
NM_003000.3:c.233A>T MANE Select	NP_002991.2:p.Lys78Met