Canonical Allele Identifier: CA338228161

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2031163
• ClinVar RCV Id: RCV002872245
• gnomAD v4: 1-17044834-C-T
• MyVariant Identifiers: chr1:g.17371329C>T (hg19) ; chr1:g.17044834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044834C>T , CM000663.2:g.17044834C>T	GRCh38
NC_000001.10:g.17371329C>T , CM000663.1:g.17371329C>T	GRCh37
NC_000001.9:g.17243916C>T	NCBI36
NG_012340.1:g.14337G>A , LRG_316:g.14337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-45G>A	ENSP00000481376.2:n.-45G>A
ENST00000491274.6:c.85G>A	ENSP00000480482.2:p.Ala29Thr
ENST00000375499.8:c.127G>A MANE Select	ENSP00000364649.3:p.Ala43Thr
ENST00000375499.7:c.127G>A	ENSP00000364649.3:p.Ala43Thr
ENST00000463045.2:c.-45G>A	ENSP00000481376.1:n.-45G>A
ENST00000466613.2:n.139G>A
ENST00000475506.1:n.44G>A
ENST00000485515.5:n.115G>A
ENST00000491274.5:c.85G>A	ENSP00000480482.1:p.Ala29Thr
NM_003000.2:c.127G>A , LRG_316t1:c.127G>A	NP_002991.2:p.Ala43Thr
NM_003000.3:c.127G>A MANE Select	NP_002991.2:p.Ala43Thr