Canonical Allele Identifier: CA338273962

Gene: SDHB

Linked Data

• dbSNP Id: rs786203529
• COSMIC: COSM5613818
• MyVariant Identifiers: chr1:g.17355106C>T (hg19) ; chr1:g.17028611C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028611C>T , CM000663.2:g.17028611C>T	GRCh38
NC_000001.10:g.17355106C>T , CM000663.1:g.17355106C>T	GRCh37
NC_000001.9:g.17227693C>T	NCBI36
NG_012340.1:g.30560G>A , LRG_316:g.30560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.241G>A	ENSP00000481376.2:p.Asp81Asn
ENST00000491274.6:c.370G>A	ENSP00000480482.2:p.Asp124Asn
ENST00000375499.8:c.412G>A MANE Select	ENSP00000364649.3:p.Asp138Asn
ENST00000375499.7:c.412G>A	ENSP00000364649.3:p.Asp138Asn
ENST00000463045.2:c.241G>A	ENSP00000481376.1:p.Asp81Asn
ENST00000475506.1:n.329G>A
ENST00000485515.5:n.357+43G>A
ENST00000491274.5:c.370G>A	ENSP00000480482.1:p.Asp124Asn
NM_003000.2:c.412G>A , LRG_316t1:c.412G>A	NP_002991.2:p.Asp138Asn
NM_003000.3:c.412G>A MANE Select	NP_002991.2:p.Asp138Asn