Canonical Allele Identifier: CA338274230

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1394716
• ClinVar RCV Id: RCV001884875
• dbSNP Id: rs2101523036
• MyVariant Identifiers: chr1:g.17355126G>A (hg19) ; chr1:g.17028631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028631G>A , CM000663.2:g.17028631G>A	GRCh38
NC_000001.10:g.17355126G>A , CM000663.1:g.17355126G>A	GRCh37
NC_000001.9:g.17227713G>A	NCBI36
NG_012340.1:g.30540C>T , LRG_316:g.30540C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.221C>T	ENSP00000481376.2:p.Pro74Leu
ENST00000491274.6:c.350C>T	ENSP00000480482.2:p.Pro117Leu
ENST00000375499.8:c.392C>T MANE Select	ENSP00000364649.3:p.Pro131Leu
ENST00000375499.7:c.392C>T	ENSP00000364649.3:p.Pro131Leu
ENST00000463045.2:c.221C>T	ENSP00000481376.1:p.Pro74Leu
ENST00000475506.1:n.309C>T
ENST00000485515.5:n.357+23C>T
ENST00000491274.5:c.350C>T	ENSP00000480482.1:p.Pro117Leu
NM_003000.2:c.392C>T , LRG_316t1:c.392C>T	NP_002991.2:p.Pro131Leu
NM_003000.3:c.392C>T MANE Select	NP_002991.2:p.Pro131Leu