Canonical Allele Identifier: CA416081925

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1160847
• ClinVar RCV Id: RCV001505142
• dbSNP Id: rs2101513742
• MyVariant Identifiers: chr1:g.17349151A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022656A>T , CM000663.2:g.17022656A>T	GRCh38
NC_000001.10:g.17349151A>T , CM000663.1:g.17349151A>T	GRCh37
NC_000001.9:g.17221738A>T	NCBI36
NG_012340.1:g.36515T>A , LRG_316:g.36515T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.546T>A	ENSP00000481376.2:p.Ser182=
ENST00000491274.6:c.675T>A	ENSP00000480482.2:p.Ser225=
ENST00000375499.8:c.717T>A MANE Select	ENSP00000364649.3:p.Ser239=
ENST00000375499.7:c.717T>A	ENSP00000364649.3:p.Ser239=
ENST00000475049.5:n.142T>A
ENST00000485092.5:n.381T>A
ENST00000485515.5:n.651T>A
NM_003000.2:c.717T>A , LRG_316t1:c.717T>A	NP_002991.2:p.Ser239=
NM_003000.3:c.717T>A MANE Select	NP_002991.2:p.Ser239=