Canonical Allele Identifier: CA338270249

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1379951
• ClinVar RCV Id: RCV001892128
• dbSNP Id: rs2101513765
• MyVariant Identifiers: chr1:g.17349153A>G (hg19) ; chr1:g.17022658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022658A>G , CM000663.2:g.17022658A>G	GRCh38
NC_000001.10:g.17349153A>G , CM000663.1:g.17349153A>G	GRCh37
NC_000001.9:g.17221740A>G	NCBI36
NG_012340.1:g.36513T>C , LRG_316:g.36513T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.544T>C	ENSP00000481376.2:p.Ser182Pro
ENST00000491274.6:c.673T>C	ENSP00000480482.2:p.Ser225Pro
ENST00000375499.8:c.715T>C MANE Select	ENSP00000364649.3:p.Ser239Pro
ENST00000375499.7:c.715T>C	ENSP00000364649.3:p.Ser239Pro
ENST00000475049.5:n.140T>C
ENST00000485092.5:n.379T>C
ENST00000485515.5:n.649T>C
NM_003000.2:c.715T>C , LRG_316t1:c.715T>C	NP_002991.2:p.Ser239Pro
NM_003000.3:c.715T>C MANE Select	NP_002991.2:p.Ser239Pro