Canonical Allele Identifier: CA338270521

Gene: SDHB

Linked Data

• ClinVar Variation Id: 826411
• ClinVar RCV Id: RCV001025276 ; RCV002550909
• dbSNP Id: rs1060503761
• MyVariant Identifiers: chr1:g.17349224G>T (hg19) ; chr1:g.17022729G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022729G>T , CM000663.2:g.17022729G>T	GRCh38
NC_000001.10:g.17349224G>T , CM000663.1:g.17349224G>T	GRCh37
NC_000001.9:g.17221811G>T	NCBI36
NG_012340.1:g.36442C>A , LRG_316:g.36442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.473C>A	ENSP00000481376.2:p.Ala158Asp
ENST00000491274.6:c.602C>A	ENSP00000480482.2:p.Ala201Asp
ENST00000375499.8:c.644C>A MANE Select	ENSP00000364649.3:p.Ala215Asp
ENST00000375499.7:c.644C>A	ENSP00000364649.3:p.Ala215Asp
ENST00000475049.5:n.69C>A
ENST00000485092.5:n.308C>A
ENST00000485515.5:n.578C>A
NM_003000.2:c.644C>A , LRG_316t1:c.644C>A	NP_002991.2:p.Ala215Asp
NM_003000.3:c.644C>A MANE Select	NP_002991.2:p.Ala215Asp