Canonical Allele Identifier: CA338272503

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2944626
• ClinVar RCV Id: RCV003808328
• MyVariant Identifiers: chr1:g.17354258C>T (hg19) ; chr1:g.17027763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027763C>T , CM000663.2:g.17027763C>T	GRCh38
NC_000001.10:g.17354258C>T , CM000663.1:g.17354258C>T	GRCh37
NC_000001.9:g.17226845C>T	NCBI36
NG_012340.1:g.31408G>A , LRG_316:g.31408G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.355G>A	ENSP00000481376.2:p.Glu119Lys
ENST00000491274.6:c.484G>A	ENSP00000480482.2:p.Glu162Lys
ENST00000375499.8:c.526G>A MANE Select	ENSP00000364649.3:p.Glu176Lys
ENST00000375499.7:c.526G>A	ENSP00000364649.3:p.Glu176Lys
ENST00000463045.2:c.355G>A	ENSP00000481376.1:p.Glu119Lys
ENST00000475506.1:n.443G>A
ENST00000485515.5:n.460G>A
ENST00000491274.5:c.484G>A	ENSP00000480482.1:p.Glu162Lys
NM_003000.2:c.526G>A , LRG_316t1:c.526G>A	NP_002991.2:p.Glu176Lys
NM_003000.3:c.526G>A MANE Select	NP_002991.2:p.Glu176Lys