Canonical Allele Identifier: CA10581749

Gene: SDHB

Linked Data

• ClinVar Variation Id: 239426
• ClinVar RCV Id: RCV000226167
• dbSNP Id: rs763547482
• MyVariant Identifiers: chr1:g.17359593A>G (hg19) ; chr1:g.17033098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17033098A>G , CM000663.2:g.17033098A>G	GRCh38
NC_000001.10:g.17359593A>G , CM000663.1:g.17359593A>G	GRCh37
NC_000001.9:g.17232180A>G	NCBI36
NG_012340.1:g.26073T>C , LRG_316:g.26073T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.77T>C	ENSP00000481376.2:p.Val26Ala
ENST00000491274.6:c.206T>C	ENSP00000480482.2:p.Val69Ala
ENST00000375499.8:c.248T>C MANE Select	ENSP00000364649.3:p.Val83Ala
ENST00000375499.7:c.248T>C	ENSP00000364649.3:p.Val83Ala
ENST00000463045.2:c.77T>C	ENSP00000481376.1:p.Val26Ala
ENST00000466613.2:n.260T>C
ENST00000475506.1:n.165T>C
ENST00000485515.5:n.236T>C
ENST00000491274.5:c.206T>C	ENSP00000480482.1:p.Val69Ala
NM_003000.2:c.248T>C , LRG_316t1:c.248T>C	NP_002991.2:p.Val83Ala
NM_003000.3:c.248T>C MANE Select	NP_002991.2:p.Val83Ala