Canonical Allele Identifier: CA338273939

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1738135
• ClinVar RCV Id: RCV002333114
• MyVariant Identifiers: chr1:g.17355105T>A (hg19) ; chr1:g.17028610T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028610T>A , CM000663.2:g.17028610T>A	GRCh38
NC_000001.10:g.17355105T>A , CM000663.1:g.17355105T>A	GRCh37
NC_000001.9:g.17227692T>A	NCBI36
NG_012340.1:g.30561A>T , LRG_316:g.30561A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.242A>T	ENSP00000481376.2:p.Asp81Val
ENST00000491274.6:c.371A>T	ENSP00000480482.2:p.Asp124Val
ENST00000375499.8:c.413A>T MANE Select	ENSP00000364649.3:p.Asp138Val
ENST00000375499.7:c.413A>T	ENSP00000364649.3:p.Asp138Val
ENST00000463045.2:c.242A>T	ENSP00000481376.1:p.Asp81Val
ENST00000475506.1:n.330A>T
ENST00000485515.5:n.357+44A>T
ENST00000491274.5:c.371A>T	ENSP00000480482.1:p.Asp124Val
NM_003000.2:c.413A>T , LRG_316t1:c.413A>T	NP_002991.2:p.Asp138Val
NM_003000.3:c.413A>T MANE Select	NP_002991.2:p.Asp138Val