Canonical Allele Identifier: CA338274150

Gene: SDHB

Linked Data

• gnomAD v4: 1-17028628-T-A
• MyVariant Identifiers: chr1:g.17355123T>A (hg19) ; chr1:g.17028628T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028628T>A , CM000663.2:g.17028628T>A	GRCh38
NC_000001.10:g.17355123T>A , CM000663.1:g.17355123T>A	GRCh37
NC_000001.9:g.17227710T>A	NCBI36
NG_012340.1:g.30543A>T , LRG_316:g.30543A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.224A>T	ENSP00000481376.2:p.His75Leu
ENST00000491274.6:c.353A>T	ENSP00000480482.2:p.His118Leu
ENST00000375499.8:c.395A>T MANE Select	ENSP00000364649.3:p.His132Leu
ENST00000375499.7:c.395A>T	ENSP00000364649.3:p.His132Leu
ENST00000463045.2:c.224A>T	ENSP00000481376.1:p.His75Leu
ENST00000475506.1:n.312A>T
ENST00000485515.5:n.357+26A>T
ENST00000491274.5:c.353A>T	ENSP00000480482.1:p.His118Leu
NM_003000.2:c.395A>T , LRG_316t1:c.395A>T	NP_002991.2:p.His132Leu
NM_003000.3:c.395A>T MANE Select	NP_002991.2:p.His132Leu