Canonical Allele Identifier: CA338273359

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2091960
• ClinVar RCV Id: RCV003015867
• MyVariant Identifiers: chr1:g.17354345A>G (hg19) ; chr1:g.17027850A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027850A>G , CM000663.2:g.17027850A>G	GRCh38
NC_000001.10:g.17354345A>G , CM000663.1:g.17354345A>G	GRCh37
NC_000001.9:g.17226932A>G	NCBI36
NG_012340.1:g.31321T>C , LRG_316:g.31321T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.268T>C	ENSP00000481376.2:p.Tyr90His
ENST00000491274.6:c.397T>C	ENSP00000480482.2:p.Tyr133His
ENST00000375499.8:c.439T>C MANE Select	ENSP00000364649.3:p.Tyr147His
ENST00000375499.7:c.439T>C	ENSP00000364649.3:p.Tyr147His
ENST00000463045.2:c.268T>C	ENSP00000481376.1:p.Tyr90His
ENST00000475506.1:n.356T>C
ENST00000485515.5:n.373T>C
ENST00000491274.5:c.397T>C	ENSP00000480482.1:p.Tyr133His
NM_003000.2:c.439T>C , LRG_316t1:c.439T>C	NP_002991.2:p.Tyr147His
NM_003000.3:c.439T>C MANE Select	NP_002991.2:p.Tyr147His