Canonical Allele Identifier: CA338272544

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1053654
• ClinVar RCV Id: RCV001362028 ; RCV002341763
• dbSNP Id: rs2077999499
• gnomAD v4: 1-17027772-A-G
• MyVariant Identifiers: chr1:g.17354267A>G (hg19) ; chr1:g.17027772A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027772A>G , CM000663.2:g.17027772A>G	GRCh38
NC_000001.10:g.17354267A>G , CM000663.1:g.17354267A>G	GRCh37
NC_000001.9:g.17226854A>G	NCBI36
NG_012340.1:g.31399T>C , LRG_316:g.31399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.346T>C	ENSP00000481376.2:p.Ser116Pro
ENST00000491274.6:c.475T>C	ENSP00000480482.2:p.Ser159Pro
ENST00000375499.8:c.517T>C MANE Select	ENSP00000364649.3:p.Ser173Pro
ENST00000375499.7:c.517T>C	ENSP00000364649.3:p.Ser173Pro
ENST00000463045.2:c.346T>C	ENSP00000481376.1:p.Ser116Pro
ENST00000475506.1:n.434T>C
ENST00000485515.5:n.451T>C
ENST00000491274.5:c.475T>C	ENSP00000480482.1:p.Ser159Pro
NM_003000.2:c.517T>C , LRG_316t1:c.517T>C	NP_002991.2:p.Ser173Pro
NM_003000.3:c.517T>C MANE Select	NP_002991.2:p.Ser173Pro