Canonical Allele Identifier: CA338273503

Gene: SDHB

Linked Data

• ClinVar Variation Id: 824752
• ClinVar RCV Id: RCV001022207 ; RCV001070335 ; RCV004004626
• dbSNP Id: rs1570948034
• gnomAD v4: 1-17027862-A-T
• MyVariant Identifiers: chr1:g.17354357A>T (hg19) ; chr1:g.17027862A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027862A>T , CM000663.2:g.17027862A>T	GRCh38
NC_000001.10:g.17354357A>T , CM000663.1:g.17354357A>T	GRCh37
NC_000001.9:g.17226944A>T	NCBI36
NG_012340.1:g.31309T>A , LRG_316:g.31309T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.256T>A	ENSP00000481376.2:p.Leu86Met
ENST00000491274.6:c.385T>A	ENSP00000480482.2:p.Leu129Met
ENST00000375499.8:c.427T>A MANE Select	ENSP00000364649.3:p.Leu143Met
ENST00000375499.7:c.427T>A	ENSP00000364649.3:p.Leu143Met
ENST00000463045.2:c.256T>A	ENSP00000481376.1:p.Leu86Met
ENST00000475506.1:n.344T>A
ENST00000485515.5:n.361T>A
ENST00000491274.5:c.385T>A	ENSP00000480482.1:p.Leu129Met
NM_003000.2:c.427T>A , LRG_316t1:c.427T>A	NP_002991.2:p.Leu143Met
NM_003000.3:c.427T>A MANE Select	NP_002991.2:p.Leu143Met