Canonical Allele Identifier: CA338274795

Gene: SDHB

Linked Data

• ClinVar Variation Id: 528739
• ClinVar RCV Id: RCV000633962
• dbSNP Id: rs1553177762
• MyVariant Identifiers: chr1:g.17355183G>C (hg19) ; chr1:g.17028688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028688G>C , CM000663.2:g.17028688G>C	GRCh38
NC_000001.10:g.17355183G>C , CM000663.1:g.17355183G>C	GRCh37
NC_000001.9:g.17227770G>C	NCBI36
NG_012340.1:g.30483C>G , LRG_316:g.30483C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.164C>G	ENSP00000481376.2:p.Ala55Gly
ENST00000491274.6:c.293C>G	ENSP00000480482.2:p.Ala98Gly
ENST00000375499.8:c.335C>G MANE Select	ENSP00000364649.3:p.Ala112Gly
ENST00000375499.7:c.335C>G	ENSP00000364649.3:p.Ala112Gly
ENST00000463045.2:c.164C>G	ENSP00000481376.1:p.Ala55Gly
ENST00000475506.1:n.252C>G
ENST00000485515.5:n.323C>G
ENST00000491274.5:c.293C>G	ENSP00000480482.1:p.Ala98Gly
NM_003000.2:c.335C>G , LRG_316t1:c.335C>G	NP_002991.2:p.Ala112Gly
NM_003000.3:c.335C>G MANE Select	NP_002991.2:p.Ala112Gly