Canonical Allele Identifier: CA416088073

Gene: SDHB

Linked Data

• ClinVar Variation Id: 459143
• ClinVar RCV Id: RCV001468815 ; RCV002448650
• dbSNP Id: rs1553177766
• MyVariant Identifiers: chr1:g.17355212T>C (hg19) ; chr1:g.17028717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028717T>C , CM000663.2:g.17028717T>C	GRCh38
NC_000001.10:g.17355212T>C , CM000663.1:g.17355212T>C	GRCh37
NC_000001.9:g.17227799T>C	NCBI36
NG_012340.1:g.30454A>G , LRG_316:g.30454A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.135A>G	ENSP00000481376.2:p.Ala45=
ENST00000491274.6:c.264A>G	ENSP00000480482.2:p.Ala88=
ENST00000375499.8:c.306A>G MANE Select	ENSP00000364649.3:p.Ala102=
ENST00000375499.7:c.306A>G	ENSP00000364649.3:p.Ala102=
ENST00000463045.2:c.135A>G	ENSP00000481376.1:p.Ala45=
ENST00000475506.1:n.223A>G
ENST00000485515.5:n.294A>G
ENST00000491274.5:c.264A>G	ENSP00000480482.1:p.Ala88=
NM_003000.2:c.306A>G , LRG_316t1:c.306A>G	NP_002991.2:p.Ala102=
NM_003000.3:c.306A>G MANE Select	NP_002991.2:p.Ala102=